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A form of muscular dystrophy associated with pathogenic variants in JAG2.

American journal of human genetics

Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Toosi MB, Karimiani EG, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB.
PMID: 34087166
Am J Hum Genet. 2021 Jun 03;108(6):1164. doi: 10.1016/j.ajhg.2021.04.018.

No abstract available.

Cite
Coppens S, Barnard AM, Puusepp S, et al. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021;108(6):1164doi: 10.1016/j.ajhg.2021.04.018.
Coppens, S., Barnard, A. M., Puusepp, S., Pajusalu, S., Õunap, K., Vargas-Franco, D., Bruels, C. C., Donkervoort, S., Pais, L., Chao, K. R., Goodrich, J. K., England, E. M., Weisburd, B., Ganesh, V. S., Gudmundsson, S., O'Donnell-Luria, A., Nigul, M., Ilves, P., Mohassel, P., Siddique, T., Milone, M., Nicolau, S., Maroofian, R., Houlden, H., Hanna, M. G., Quinlivan, R., Toosi, M. B., Karimiani, E. G., Costagliola, S., Deconinck, N., Kadhim, H., Macke, E., Lanpher, B. C., Klee, E. W., Łusakowska, A., Kostera-Pruszczyk, A., Hahn, A., Schrank, B., Nishino, I., Ogasawara, M., El Sherif, R., Stojkovic, T., Nelson, I., Bonne, G., Cohen, E., Boland-Augé, A., Deleuze, J. F., Meng, Y., Töpf, A., Vilain, C., Pacak, C. A., Rivera-Zengotita, M. L., Bönnemann, C. G., Straub, V., Handford, P. A., Draper, I., Walter, G. A., & Kang, P. B. (2021). A form of muscular dystrophy associated with pathogenic variants in JAG2. American journal of human genetics, 108(6), 1164. https://doi.org/10.1016/j.ajhg.2021.04.018
Coppens, Sandra, et al. "A form of muscular dystrophy associated with pathogenic variants in JAG2." American journal of human genetics vol. 108,6 (2021): 1164. doi: https://doi.org/10.1016/j.ajhg.2021.04.018
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Toosi MB, Karimiani EG, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 Jun 03;108(6):1164. doi: 10.1016/j.ajhg.2021.04.018. PMID: 34087166; PMCID: PMC8206378.
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Evaluation of the role of .

Blood research

Akbarin MM, Shirdel A, Bari A, Mohaddes ST, Rafatpanah H, Karimani EG, Etminani K, Golabpour A, Torshizi R.
PMID: 28698846
Blood Res. 2017 Jun;52(2):106-111. doi: 10.5045/br.2017.52.2.106. Epub 2017 Jun 22.

BACKGROUND: Adult T-cell leukemia/lymphoma (ATLL) is an aggressive malignancy with very poor prognosis and short survival, caused by the human T-lymphotropic virus type-1 (HTLV-1). The HTLV-1 biomarkers trans-activator x (TAX) and HTLV-1 basic leucine zipper factor (HBZ) are main...

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Akbarin MM, Shirdel A, Bari A, et al. Evaluation of the role of . Blood Res. 2017;52(2):106-111doi: 10.5045/br.2017.52.2.106.
Akbarin, M. M., Shirdel, A., Bari, A., Mohaddes, S. T., Rafatpanah, H., Karimani, E. G., Etminani, K., Golabpour, A., & Torshizi, R. (2017). Evaluation of the role of . Blood research, 52(2), 106-111. https://doi.org/10.5045/br.2017.52.2.106
Akbarin, Mohammad Mehdi, et al. "Evaluation of the role of ." Blood research vol. 52,2 (2017): 106-111. doi: https://doi.org/10.5045/br.2017.52.2.106
Akbarin MM, Shirdel A, Bari A, Mohaddes ST, Rafatpanah H, Karimani EG, Etminani K, Golabpour A, Torshizi R. Evaluation of the role of . Blood Res. 2017 Jun;52(2):106-111. doi: 10.5045/br.2017.52.2.106. Epub 2017 Jun 22. PMID: 28698846; PMCID: PMC5503887.
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Genetic regulation of the growth plate.

Frontiers in endocrinology

Karimian E, Chagin AS, Sävendahl L.
PMID: 22654844
Front Endocrinol (Lausanne). 2012 Jan 09;2:113. doi: 10.3389/fendo.2011.00113. eCollection 2011.

The epiphyseal growth plate consists of a layer of cartilage present only during the growth period and vanishes soon after puberty in long bones. It is divided to three well-defined zones, from epiphyses; resting, proliferative, and hypertrophic zones. Chondrocyte...

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Karimian E, Chagin AS, Sävendahl L. Genetic regulation of the growth plate. Front Endocrinol (Lausanne). 2012;2:113doi: 10.3389/fendo.2011.00113.
Karimian, E., Chagin, A. S., & Sävendahl, L. (2011). Genetic regulation of the growth plate. Frontiers in endocrinology, 2113. https://doi.org/10.3389/fendo.2011.00113
Karimian, Elham, et al. "Genetic regulation of the growth plate." Frontiers in endocrinology vol. 2 (2011): 113. doi: https://doi.org/10.3389/fendo.2011.00113
Karimian E, Chagin AS, Sävendahl L. Genetic regulation of the growth plate. Front Endocrinol (Lausanne). 2012 Jan 09;2:113. doi: 10.3389/fendo.2011.00113. eCollection 2011. PMID: 22654844; PMCID: PMC3356134.
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A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the .

Frontiers in pediatrics

Najafi M, Tamandani DMK, Azarfar A, Bakey Z, Behjati F, Antony D, Schüle I, Sadeghi-Bojd S, Karimiani EG, Schmidts M.
PMID: 30949462
Front Pediatr. 2019 Mar 21;7:89. doi: 10.3389/fped.2019.00089. eCollection 2019.

No abstract available.

Cite
Najafi M, Tamandani DMK, Azarfar A, et al. A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the . Front Pediatr. 2019;7:89doi: 10.3389/fped.2019.00089.
Najafi, M., Tamandani, D. M. K., Azarfar, A., Bakey, Z., Behjati, F., Antony, D., Schüle, I., Sadeghi-Bojd, S., Karimiani, E. G., & Schmidts, M. (2019). A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the . Frontiers in pediatrics, 789. https://doi.org/10.3389/fped.2019.00089
Najafi, Maryam, et al. "A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the ." Frontiers in pediatrics vol. 7 (2019): 89. doi: https://doi.org/10.3389/fped.2019.00089
Najafi M, Tamandani DMK, Azarfar A, Bakey Z, Behjati F, Antony D, Schüle I, Sadeghi-Bojd S, Karimiani EG, Schmidts M. A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the . Front Pediatr. 2019 Mar 21;7:89. doi: 10.3389/fped.2019.00089. eCollection 2019. PMID: 30949462; PMCID: PMC6437787.
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A New Approach Against Some Oral Pathogenic Bacteria Using a Chimeric Antimicrobial Peptide Derived from the Camel Milk; Lactoferrampin - Lactoferricin Chimer.

Current drug discovery technologies

Mohammadipour HS, Akbari M, Tanhaeian A, Pourgonabadi S, Sekandari S, Karimian E.
PMID: 33183206
Curr Drug Discov Technol. 2021;18(6):e130921187870. doi: 10.2174/1570163817999201111193507.

OBJECTIVES: The present study was conducted to evaluate the antimicrobial effects of the recombinant chimer present in the lactoferrampin-lactoferricin [LFA-LFC] derived from the camel milk on some oral bacteria responsible for dental caries and endodontic failures.METHODS AND MATERIAL: The...

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Mohammadipour HS, Akbari M, Tanhaeian A, et al. A New Approach Against Some Oral Pathogenic Bacteria Using a Chimeric Antimicrobial Peptide Derived from the Camel Milk; Lactoferrampin - Lactoferricin Chimer. Curr Drug Discov Technol. 2021;18(6):e130921187870doi: 10.2174/1570163817999201111193507.
Mohammadipour, H. S., Akbari, M., Tanhaeian, A., Pourgonabadi, S., Sekandari, S., & Karimian, E. (2021). A New Approach Against Some Oral Pathogenic Bacteria Using a Chimeric Antimicrobial Peptide Derived from the Camel Milk; Lactoferrampin - Lactoferricin Chimer. Current drug discovery technologies, 18(6), e130921187870. https://doi.org/10.2174/1570163817999201111193507
Mohammadipour, Hamideh Sadat, et al. "A New Approach Against Some Oral Pathogenic Bacteria Using a Chimeric Antimicrobial Peptide Derived from the Camel Milk; Lactoferrampin - Lactoferricin Chimer." Current drug discovery technologies vol. 18,6 (2021): e130921187870. doi: https://doi.org/10.2174/1570163817999201111193507
Mohammadipour HS, Akbari M, Tanhaeian A, Pourgonabadi S, Sekandari S, Karimian E. A New Approach Against Some Oral Pathogenic Bacteria Using a Chimeric Antimicrobial Peptide Derived from the Camel Milk; Lactoferrampin - Lactoferricin Chimer. Curr Drug Discov Technol. 2021;18(6):e130921187870. doi: 10.2174/1570163817999201111193507. PMID: 33183206.
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

American journal of human genetics

Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Weixler L, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.
PMID: 34861176
Am J Hum Genet. 2021 Dec 02;108(12):2385. doi: 10.1016/j.ajhg.2021.11.013.

No abstract available.

Cite
Ghosh SG, Becker K, Huang H, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2021;108(12):2385doi: 10.1016/j.ajhg.2021.11.013.
Ghosh, S. G., Becker, K., Huang, H., Salazar, T. D., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmüller, J., Weixler, L., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., & Gleeson, J. G. (2021). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American journal of human genetics, 108(12), 2385. https://doi.org/10.1016/j.ajhg.2021.11.013
Ghosh, Shereen G, et al. "Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome." American journal of human genetics vol. 108,12 (2021): 2385. doi: https://doi.org/10.1016/j.ajhg.2021.11.013
Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Weixler L, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2021 Dec 02;108(12):2385. doi: 10.1016/j.ajhg.2021.11.013. PMID: 34861176; PMCID: PMC8715173.
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Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.

Human mutation

Keller N, Paketci C, Altmueller J, Fuhrmann N, Wunderlich G, Schrank B, Unver O, Yilmaz S, Boostani R, Karimiani EG, Motameny S, Thiele H, Nürnberg P, Maroofian R, Yis U, Wirth B, Karakaya M.
PMID: 33600046
Hum Mutat. 2021 Apr;42(4):460-472. doi: 10.1002/humu.24181. Epub 2021 Mar 03.

Hereditary lower motor neuron diseases (LMND) other than 5q-spinal muscular atrophy (5q-SMA) can be classified according to affected muscle groups. Proximal and distal forms of non-5q-SMA represent a clinically and genetically heterogeneous spectrum characterized by significant overlaps with axonal...

Cite
Keller N, Paketci C, Altmueller J, et al. Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum Mutat. 2021;42(4):460-472doi: 10.1002/humu.24181.
Keller, N., Paketci, C., Altmueller, J., Fuhrmann, N., Wunderlich, G., Schrank, B., Unver, O., Yilmaz, S., Boostani, R., Karimiani, E. G., Motameny, S., Thiele, H., Nürnberg, P., Maroofian, R., Yis, U., Wirth, B., & Karakaya, M. (2021). Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Human mutation, 42(4), 460-472. https://doi.org/10.1002/humu.24181
Keller, Natalie, et al. "Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease." Human mutation vol. 42,4 (2021): 460-472. doi: https://doi.org/10.1002/humu.24181
Keller N, Paketci C, Altmueller J, Fuhrmann N, Wunderlich G, Schrank B, Unver O, Yilmaz S, Boostani R, Karimiani EG, Motameny S, Thiele H, Nürnberg P, Maroofian R, Yis U, Wirth B, Karakaya M. Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum Mutat. 2021 Apr;42(4):460-472. doi: 10.1002/humu.24181. Epub 2021 Mar 03. PMID: 33600046.
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The Application of a Recombinant Antimicrobial Peptide of Thrombocidin-1 expressed in Pichia pastoris as a Novel Approach Against Some Oral Pathogenic Bacteria: An In-vitro Study.

Protein and peptide letters

Forouzanfar F, Mohammadipour HS, Akbari M, Beyraghshamshir R, Tanhaeian A, Karimian E.
PMID: 34825862
Protein Pept Lett. 2021 Nov 26; doi: 10.2174/0929866528666211126161928. Epub 2021 Nov 26.

OBJECTIVE: Oral infections and dental caries are considered serious health problems. Therefore, searching for new agents with antimicrobial properties seems to be crucial. This study aimed to evaluate the antimicrobial activity of the recombinant Thrombocidin-1 [TC-1] peptide on some...

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Forouzanfar F, Mohammadipour HS, Akbari M, et al. The Application of a Recombinant Antimicrobial Peptide of Thrombocidin-1 expressed in Pichia pastoris as a Novel Approach Against Some Oral Pathogenic Bacteria: An In-vitro Study. Protein Pept Lett. 2021;doi: 10.2174/0929866528666211126161928.
Forouzanfar, F., Mohammadipour, H. S., Akbari, M., Beyraghshamshir, R., Tanhaeian, A., & Karimian, E. (2021). The Application of a Recombinant Antimicrobial Peptide of Thrombocidin-1 expressed in Pichia pastoris as a Novel Approach Against Some Oral Pathogenic Bacteria: An In-vitro Study. Protein and peptide letters, . https://doi.org/10.2174/0929866528666211126161928
Forouzanfar, Fatemeh, et al. "The Application of a Recombinant Antimicrobial Peptide of Thrombocidin-1 expressed in Pichia pastoris as a Novel Approach Against Some Oral Pathogenic Bacteria: An In-vitro Study." Protein and peptide letters vol. (2021). doi: https://doi.org/10.2174/0929866528666211126161928
Forouzanfar F, Mohammadipour HS, Akbari M, Beyraghshamshir R, Tanhaeian A, Karimian E. The Application of a Recombinant Antimicrobial Peptide of Thrombocidin-1 expressed in Pichia pastoris as a Novel Approach Against Some Oral Pathogenic Bacteria: An In-vitro Study. Protein Pept Lett. 2021 Nov 26; doi: 10.2174/0929866528666211126161928. Epub 2021 Nov 26. PMID: 34825862.
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JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion

Ayatollahi H, Sadeghian MH, Keramati MR, Karimiani EG, Jafarian AH, Shirdel A, Rahimi H, Zangane-Far ME, Shajiei A, Sheikhi M.
PMID: 27812253
Indian J Hematol Blood Transfus. 2016 Dec;32(4):437-441. doi: 10.1007/s12288-015-0620-4. Epub 2015 Dec 17.

Adult T cell Leukemia/lymphoma (ATL) is a mature T-cell neoplasm that has strong association with the human T-lymphotropic virus type 1 (HTLV-I) infection. This infection is endemic in our region (north eastern Iran). It has been highlighted that Janus...

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Ayatollahi H, Sadeghian MH, Keramati MR, et al. JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma. Indian J Hematol Blood Transfus. 2015;32(4):437-441doi: 10.1007/s12288-015-0620-4.
Ayatollahi, H., Sadeghian, M. H., Keramati, M. R., Karimiani, E. G., Jafarian, A. H., Shirdel, A., Rahimi, H., Zangane-Far, M. E., Shajiei, A., & Sheikhi, M. (2016). JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion, 32(4), 437-441. https://doi.org/10.1007/s12288-015-0620-4
Ayatollahi, Hossein, et al. "JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma." Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion vol. 32,4 (2016): 437-441. doi: https://doi.org/10.1007/s12288-015-0620-4
Ayatollahi H, Sadeghian MH, Keramati MR, Karimiani EG, Jafarian AH, Shirdel A, Rahimi H, Zangane-Far ME, Shajiei A, Sheikhi M. JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma. Indian J Hematol Blood Transfus. 2016 Dec;32(4):437-441. doi: 10.1007/s12288-015-0620-4. Epub 2015 Dec 17. PMID: 27812253; PMCID: PMC5074958.
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Variable skeletal phenotypes associated with biallelic variants in .

Journal of medical genetics

Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskär K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC.
PMID: 34782440
J Med Genet. 2021 Nov 15; doi: 10.1136/jmedgenet-2021-108027. Epub 2021 Nov 15.

No abstract available.

Cite
Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, et al. Variable skeletal phenotypes associated with biallelic variants in . J Med Genet. 2021;doi: 10.1136/jmedgenet-2021-108027.
Pagnamenta, A. T., Diaz-Gonzalez, F., Banos-Pinero, B., Ferla, M. P., Toosi, M. B., Calder, A. D., Karimiani, E. G., Doosti, M., Wainwright, A., Wordsworth, P., Bailey, K., Ejeskär, K., Lester, T., Maroofian, R., Heath, K. E., Tajsharghi, H., Shears, D., Taylor, J. C. (2021). Variable skeletal phenotypes associated with biallelic variants in . Journal of medical genetics, . https://doi.org/10.1136/jmedgenet-2021-108027
Pagnamenta, Alistair T, et al. "Variable skeletal phenotypes associated with biallelic variants in ." Journal of medical genetics vol. (2021). doi: https://doi.org/10.1136/jmedgenet-2021-108027
Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskär K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC. Variable skeletal phenotypes associated with biallelic variants in . J Med Genet. 2021 Nov 15; doi: 10.1136/jmedgenet-2021-108027. Epub 2021 Nov 15. PMID: 34782440.
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Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.

Human mutation

Keller N, Paketci C, Altmueller J, Fuhrmann N, Wunderlich G, Schrank B, Unver O, Yilmaz S, Boostani R, Karimiani EG, Motameny S, Thiele H, Nürnberg P, Maroofian R, Yis U, Wirth B, Karakaya M.
PMID: 33600046
Hum Mutat. 2021 Apr;42(4):460-472. doi: 10.1002/humu.24181. Epub 2021 Mar 03.

Hereditary lower motor neuron diseases (LMND) other than 5q-spinal muscular atrophy (5q-SMA) can be classified according to affected muscle groups. Proximal and distal forms of non-5q-SMA represent a clinically and genetically heterogeneous spectrum characterized by significant overlaps with axonal...

Cite
Keller N, Paketci C, Altmueller J, et al. Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum Mutat. 2021;42(4):460-472doi: 10.1002/humu.24181.
Keller, N., Paketci, C., Altmueller, J., Fuhrmann, N., Wunderlich, G., Schrank, B., Unver, O., Yilmaz, S., Boostani, R., Karimiani, E. G., Motameny, S., Thiele, H., Nürnberg, P., Maroofian, R., Yis, U., Wirth, B., & Karakaya, M. (2021). Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Human mutation, 42(4), 460-472. https://doi.org/10.1002/humu.24181
Keller, Natalie, et al. "Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease." Human mutation vol. 42,4 (2021): 460-472. doi: https://doi.org/10.1002/humu.24181
Keller N, Paketci C, Altmueller J, Fuhrmann N, Wunderlich G, Schrank B, Unver O, Yilmaz S, Boostani R, Karimiani EG, Motameny S, Thiele H, Nürnberg P, Maroofian R, Yis U, Wirth B, Karakaya M. Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum Mutat. 2021 Apr;42(4):460-472. doi: 10.1002/humu.24181. Epub 2021 Mar 03. PMID: 33600046.
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Forensic discrimination of blue ballpoint pen inks based on thin layer chromatography and image analysis.

Forensic science international

Djozan D, Baheri T, Karimian G, Shahidi M.
PMID: 18639403
Forensic Sci Int. 2008 Aug 06;179(2):199-205. doi: 10.1016/j.forsciint.2008.05.013. Epub 2008 Jul 17.

This article aims to provide a new and fast method for differentiation of inks on a questioned document. The data acquisition was carried out by designing specific image analysis software for evaluating thin layer chromatograms (TLC-IA). The ink spot...

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Djozan D, Baheri T, Karimian G, et al. Forensic discrimination of blue ballpoint pen inks based on thin layer chromatography and image analysis. Forensic Sci Int. 2008;179(2):199-205doi: 10.1016/j.forsciint.2008.05.013.
Djozan, D., Baheri, T., Karimian, G., & Shahidi, M. (2008). Forensic discrimination of blue ballpoint pen inks based on thin layer chromatography and image analysis. Forensic science international, 179(2), 199-205. https://doi.org/10.1016/j.forsciint.2008.05.013
Djozan, Djavanshir, et al. "Forensic discrimination of blue ballpoint pen inks based on thin layer chromatography and image analysis." Forensic science international vol. 179,2 (2008): 199-205. doi: https://doi.org/10.1016/j.forsciint.2008.05.013
Djozan D, Baheri T, Karimian G, Shahidi M. Forensic discrimination of blue ballpoint pen inks based on thin layer chromatography and image analysis. Forensic Sci Int. 2008 Aug 06;179(2):199-205. doi: 10.1016/j.forsciint.2008.05.013. Epub 2008 Jul 17. PMID: 18639403.
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