Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 32 entries
Sorted by: Best Match Show Resources per page
Autism spectrum disorder in a child with propionic acidemia.

JIMD reports

Al-Owain M, Kaya N, Al-Shamrani H, Al-Bakheet A, Qari A, Al-Muaigl S, Ghaziuddin M.
PMID: 23430497
JIMD Rep. 2013;7:63-6. doi: 10.1007/8904_2012_143. Epub 2012 Mar 31.

Autism is a neurodevelopmental disorder characterized by a combination of reciprocal social deficits, communication impairment, and rigid ritualistic interests. While autism does not have an identifying cause in most of the cases, it is associated with known medical conditions...

Cite
Al-Owain M, Kaya N, Al-Shamrani H, et al. Autism spectrum disorder in a child with propionic acidemia. JIMD Rep. 2012;7:63-6doi: 10.1007/8904_2012_143.
Al-Owain, M., Kaya, N., Al-Shamrani, H., Al-Bakheet, A., Qari, A., Al-Muaigl, S., & Ghaziuddin, M. (2013). Autism spectrum disorder in a child with propionic acidemia. JIMD reports, 763-6. https://doi.org/10.1007/8904_2012_143
Al-Owain, M, et al. "Autism spectrum disorder in a child with propionic acidemia." JIMD reports vol. 7 (2013): 63-6. doi: https://doi.org/10.1007/8904_2012_143
Al-Owain M, Kaya N, Al-Shamrani H, Al-Bakheet A, Qari A, Al-Muaigl S, Ghaziuddin M. Autism spectrum disorder in a child with propionic acidemia. JIMD Rep. 2013;7:63-6. doi: 10.1007/8904_2012_143. Epub 2012 Mar 31. PMID: 23430497; PMCID: PMC3573175.
Copy Download .nbib Format: NLM
Validation of Ion Torrent.

Genes

Mustafa AE, Faquih T, Baz B, Kattan R, Al-Issa A, Tahir AI, Imtiaz F, Ramzan K, Al-Sayed M, Alowain M, Al-Hassnan Z, Al-Zaidan H, Abouelhoda M, Al-Mubarak BR, Al Tassan NA.
PMID: 29789446
Genes (Basel). 2018 May 22;9(5). doi: 10.3390/genes9050267.

Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next generation sequencing (NGS) platforms, such as target panel-based sequencing, has enabled comprehensive, quick, and precise interrogation of many...

Cite
Mustafa AE, Faquih T, Baz B, et al. Validation of Ion Torrent. Genes (Basel). 2018;9(5)doi: 10.3390/genes9050267.
Mustafa, A. E., Faquih, T., Baz, B., Kattan, R., Al-Issa, A., Tahir, A. I., Imtiaz, F., Ramzan, K., Al-Sayed, M., Alowain, M., Al-Hassnan, Z., Al-Zaidan, H., Abouelhoda, M., Al-Mubarak, B. R., & Al Tassan, N. A. (2018). Validation of Ion Torrent. Genes, 9(5), . https://doi.org/10.3390/genes9050267
Mustafa, Abeer E, et al. "Validation of Ion Torrent." Genes vol. 9,5 (2018). doi: https://doi.org/10.3390/genes9050267
Mustafa AE, Faquih T, Baz B, Kattan R, Al-Issa A, Tahir AI, Imtiaz F, Ramzan K, Al-Sayed M, Alowain M, Al-Hassnan Z, Al-Zaidan H, Abouelhoda M, Al-Mubarak BR, Al Tassan NA. Validation of Ion Torrent. Genes (Basel). 2018 May 22;9(5). doi: 10.3390/genes9050267. PMID: 29789446; PMCID: PMC5977207.
Copy Download .nbib Format: NLM
Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

Genetics in medicine : official journal of the American College of Medical Genetics

Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS.
PMID: 29300385
Genet Med. 2018 Mar;20(3):380. doi: 10.1038/gim.2017.203. Epub 2018 Jan 04.

This corrects the article DOI: 10.1038/gim.2017.22.

Cite
Monies D, Maddirevula S, Kurdi W, et al. Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. Genet Med. 2018;20(3):380doi: 10.1038/gim.2017.203.
Monies, D., Maddirevula, S., Kurdi, W., Alanazy, M. H., Alkhalidi, H., Al-Owain, M., Sulaiman, R. A., Faqeih, E., Goljan, E., Ibrahim, N., Abdulwahab, F., Hashem, M., Abouelhoda, M., Shaheen, R., Arold, S. T., & Alkuraya, F. S. (2018). Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. Genetics in medicine : official journal of the American College of Medical Genetics, 20(3), 380. https://doi.org/10.1038/gim.2017.203
Monies, Dorota, et al. "Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation." Genetics in medicine : official journal of the American College of Medical Genetics vol. 20,3 (2018): 380. doi: https://doi.org/10.1038/gim.2017.203
Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS. Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. Genet Med. 2018 Mar;20(3):380. doi: 10.1038/gim.2017.203. Epub 2018 Jan 04. PMID: 29300385.
Copy Download .nbib Format: NLM
Intraocular Lens Dislocation into the Anterior Chamber because of Repeated Eye-Poking in a Patient with Leber's Congenital Amaurosis.

Case reports in ophthalmology

Al-Owaid AA, Alarfaj MA, Alarfaj FA, Awad A.
PMID: 32095132
Case Rep Ophthalmol. 2020 Jan 22;11(1):48-53. doi: 10.1159/000505596. eCollection 2020.

The dislocation of a posterior chamber intraocular lens (PC IOL) because of constant eye rubbing is unusual and has never been reported in a child with Leber's congenital amaurosis (LCA). A 4-year-old full-term girl with an ocular history of...

Cite
Al-Owaid AA, Alarfaj MA, Alarfaj FA, et al. Intraocular Lens Dislocation into the Anterior Chamber because of Repeated Eye-Poking in a Patient with Leber's Congenital Amaurosis. Case Rep Ophthalmol. 2020;11(1):48-53doi: 10.1159/000505596.
Al-Owaid, A. A., Alarfaj, M. A., Alarfaj, F. A., & Awad, A. (2020). Intraocular Lens Dislocation into the Anterior Chamber because of Repeated Eye-Poking in a Patient with Leber's Congenital Amaurosis. Case reports in ophthalmology, 11(1), 48-53. https://doi.org/10.1159/000505596
Al-Owaid, Abdullah A, et al. "Intraocular Lens Dislocation into the Anterior Chamber because of Repeated Eye-Poking in a Patient with Leber's Congenital Amaurosis." Case reports in ophthalmology vol. 11,1 (2020): 48-53. doi: https://doi.org/10.1159/000505596
Al-Owaid AA, Alarfaj MA, Alarfaj FA, Awad A. Intraocular Lens Dislocation into the Anterior Chamber because of Repeated Eye-Poking in a Patient with Leber's Congenital Amaurosis. Case Rep Ophthalmol. 2020 Jan 22;11(1):48-53. doi: 10.1159/000505596. eCollection 2020. PMID: 32095132; PMCID: PMC7011747.
Copy Download .nbib Format: NLM
Modelling coronary flow after the Norwood operation: Influence of a suggested novel technique for coronary transfer.

Global cardiology science & practice

Al-Jughiman MK, Al-Omair MA.
PMID: 29644234
Glob Cardiol Sci Pract. 2018 Mar 14;2018(1):7. doi: 10.21542/gcsp.2018.7.

No abstract available.

Cite
Al-Jughiman MK, Al-Omair MA. Modelling coronary flow after the Norwood operation: Influence of a suggested novel technique for coronary transfer. Glob Cardiol Sci Pract. 2018;2018(1):7doi: 10.21542/gcsp.2018.7.
Al-Jughiman, M. K., & Al-Omair, M. A. (2018). Modelling coronary flow after the Norwood operation: Influence of a suggested novel technique for coronary transfer. Global cardiology science & practice, 2018(1), 7. https://doi.org/10.21542/gcsp.2018.7
Al-Jughiman, Mohammed K, and Al-Omair, Maryam A. "Modelling coronary flow after the Norwood operation: Influence of a suggested novel technique for coronary transfer." Global cardiology science & practice vol. 2018,1 (2018): 7. doi: https://doi.org/10.21542/gcsp.2018.7
Al-Jughiman MK, Al-Omair MA. Modelling coronary flow after the Norwood operation: Influence of a suggested novel technique for coronary transfer. Glob Cardiol Sci Pract. 2018 Mar 14;2018(1):7. doi: 10.21542/gcsp.2018.7. PMID: 29644234; PMCID: PMC5857063.
Copy Download .nbib Format: NLM
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

JIMD reports

Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M.
PMID: 26615597
JIMD Rep. 2016;29:39-46. doi: 10.1007/8904_2014_297. Epub 2015 Nov 29.

Defects in the human gene encoding methylmalonyl-CoA mutase enzyme (MCM) give rise to a rare autosomal recessive inherited disorder of propionate metabolism termed mut methylmalonic acidemia (MMA). Patients with mut MMA have been divided into two subgroups: mut

Cite
Imtiaz F, Al-Mubarak BM, Al-Mostafa A, et al. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. JIMD Rep. 2015;29:39-46doi: 10.1007/8904_2014_297.
Imtiaz, F., Al-Mubarak, B. M., Al-Mostafa, A., Al-Hamed, M., Allam, R., Al-Hassnan, Z., Al-Owain, M., Al-Zaidan, H., Rahbeeni, Z., Qari, A., Faqeih, E. A., Alasmari, A., Al-Mutairi, F., Alfadhel, M., Eyaid, W. M., Rashed, M. S., & Al-Sayed, M. (2016). Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. JIMD reports, 2939-46. https://doi.org/10.1007/8904_2014_297
Imtiaz, Faiqa, et al. "Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia." JIMD reports vol. 29 (2016): 39-46. doi: https://doi.org/10.1007/8904_2014_297
Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. JIMD Rep. 2016;29:39-46. doi: 10.1007/8904_2014_297. Epub 2015 Nov 29. PMID: 26615597; PMCID: PMC5059185.
Copy Download .nbib Format: NLM
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Brain : a journal of neurology

Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR.
PMID: 34605855
Brain. 2021 Oct 04; doi: 10.1093/brain/awab369. Epub 2021 Oct 04.

The solute carrier (SLC) superfamily encompasses >400 transmembrane transporters involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and metabolites across biological membranes. SLCs are highly expressed in the mammalian brain; defects in nearly 100 unique SLC-encoding...

Cite
Marafi D, Fatih JM, Kaiyrzhanov R, et al. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2021;doi: 10.1093/brain/awab369.
Marafi, D., Fatih, J. M., Kaiyrzhanov, R., Ferla, M. P., Gijavanekar, C., Al-Maraghi, A., Liu, N., Sites, E., Alsaif, H. S., Al-Owain, M., Zakkariah, M., El-Anany, E., Guliyeva, U., Guliyeva, S., Gaba, C., Haseeb, A., Alhashem, A. M., Danish, E., Karageorgou, V., Beetz, C., Subhi, A. A., Mullegama, S. V., Torti, E., Sebastin, M., Breilyn, M. S., Duberstein, S., Abdel-Hamid, M. S., Mitani, T., Du, H., Rosenfeld, J. A., Jhangiani, S. N., Coban Akdemir, Z., Gibbs, R. A., Taylor, J. C., Fakhro, K. A., Hunter, J. V., Pehlivan, D., Zaki, M. S., Gleeson, J. G., Maroofian, R., Houlden, H., Posey, J. E., Sutton, V. R., Alkuraya, F. S., Elsea, S. H., & Lupski, J. R. (2021). Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain : a journal of neurology, . https://doi.org/10.1093/brain/awab369
Marafi, Dana, et al. "Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy." Brain : a journal of neurology vol. (2021). doi: https://doi.org/10.1093/brain/awab369
Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2021 Oct 04; doi: 10.1093/brain/awab369. Epub 2021 Oct 04. PMID: 34605855.
Copy Download .nbib Format: NLM
Identification of the .

Molecular syndromology

Alfadhel M, Umair M, Almuzzaini B, Asiri A, Al Tuwaijri A, Alhamoudi K, Alyafee Y, Al-Owain M.
PMID: 34177428
Mol Syndromol. 2021 Jun;12(3):133-140. doi: 10.1159/000513829. Epub 2021 May 11.

Ciliopathies constitute heterogeneous disorders that result from mutations in ciliary proteins. These proteins play an important role in the development of organs, physiology, and signaling pathways, and sequence variations in the genes encoding these proteins are associated with multisystem...

Cite
Alfadhel M, Umair M, Almuzzaini B, et al. Identification of the . Mol Syndromol. 2021;12(3):133-140doi: 10.1159/000513829.
Alfadhel, M., Umair, M., Almuzzaini, B., Asiri, A., Al Tuwaijri, A., Alhamoudi, K., Alyafee, Y., & Al-Owain, M. (2021). Identification of the . Molecular syndromology, 12(3), 133-140. https://doi.org/10.1159/000513829
Alfadhel, Majid, et al. "Identification of the ." Molecular syndromology vol. 12,3 (2021): 133-140. doi: https://doi.org/10.1159/000513829
Alfadhel M, Umair M, Almuzzaini B, Asiri A, Al Tuwaijri A, Alhamoudi K, Alyafee Y, Al-Owain M. Identification of the . Mol Syndromol. 2021 Jun;12(3):133-140. doi: 10.1159/000513829. Epub 2021 May 11. PMID: 34177428; PMCID: PMC8215951.
Copy Download .nbib Format: NLM
Copolymer Involving 2-Hydroxyethyl Methacrylate and 2-Chloroquinyl Methacrylate: Synthesis, Characterization and In Vitro 2-Hydroxychloroquine Delivery Application.

Polymers

Aljubailah A, Alharbi WNO, Haidyrah AS, Al-Garni TS, Saeed WS, Semlali A, Alqahtani SMS, Al-Owais AA, Karami AM, Aouak T.
PMID: 34883576
Polymers (Basel). 2021 Nov 23;13(23). doi: 10.3390/polym13234072.

The Poly(2-chloroquinyl methacrylate-

Cite
Aljubailah A, Alharbi WNO, Haidyrah AS, et al. Copolymer Involving 2-Hydroxyethyl Methacrylate and 2-Chloroquinyl Methacrylate: Synthesis, Characterization and In Vitro 2-Hydroxychloroquine Delivery Application. Polymers (Basel). 2021;13(23)doi: 10.3390/polym13234072.
Aljubailah, A., Alharbi, W. N. O., Haidyrah, A. S., Al-Garni, T. S., Saeed, W. S., Semlali, A., Alqahtani, S. M. S., Al-Owais, A. A., Karami, A. M., & Aouak, T. (2021). Copolymer Involving 2-Hydroxyethyl Methacrylate and 2-Chloroquinyl Methacrylate: Synthesis, Characterization and In Vitro 2-Hydroxychloroquine Delivery Application. Polymers, 13(23), . https://doi.org/10.3390/polym13234072
Aljubailah, Abeer, et al. "Copolymer Involving 2-Hydroxyethyl Methacrylate and 2-Chloroquinyl Methacrylate: Synthesis, Characterization and In Vitro 2-Hydroxychloroquine Delivery Application." Polymers vol. 13,23 (2021). doi: https://doi.org/10.3390/polym13234072
Aljubailah A, Alharbi WNO, Haidyrah AS, Al-Garni TS, Saeed WS, Semlali A, Alqahtani SMS, Al-Owais AA, Karami AM, Aouak T. Copolymer Involving 2-Hydroxyethyl Methacrylate and 2-Chloroquinyl Methacrylate: Synthesis, Characterization and In Vitro 2-Hydroxychloroquine Delivery Application. Polymers (Basel). 2021 Nov 23;13(23). doi: 10.3390/polym13234072. PMID: 34883576.
Copy Download .nbib Format: NLM
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

American journal of human genetics

Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG.
PMID: 27588454
Am J Hum Genet. 2016 Sep 01;99(3):785. doi: 10.1016/j.ajhg.2016.08.009. Epub 2016 Sep 01.

No abstract available.

Cite
Breuss MW, Sultan T, James KN, et al. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016;99(3):785doi: 10.1016/j.ajhg.2016.08.009.
Breuss, M. W., Sultan, T., James, K. N., Rosti, R. O., Scott, E., Musaev, D., Furia, B., Reis, A., Sticht, H., Al-Owain, M., Alkuraya, F. S., Reuter, M. S., Abou Jamra, R., Trotta, C. R., & Gleeson, J. G. (2016). Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. American journal of human genetics, 99(3), 785. https://doi.org/10.1016/j.ajhg.2016.08.009
Breuss, Martin W, et al. "Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly." American journal of human genetics vol. 99,3 (2016): 785. doi: https://doi.org/10.1016/j.ajhg.2016.08.009
Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 Sep 01;99(3):785. doi: 10.1016/j.ajhg.2016.08.009. Epub 2016 Sep 01. PMID: 27588454; PMCID: PMC5011070.
Copy Download .nbib Format: NLM
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

American journal of human genetics

Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B.
PMID: 34861177
Am J Hum Genet. 2021 Dec 02;108(12):2386-2388. doi: 10.1016/j.ajhg.2021.11.009.

No abstract available.

Cite
Pottie L, Adamo CS, Beyens A, et al. Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. Am J Hum Genet. 2021;108(12):2386-2388doi: 10.1016/j.ajhg.2021.11.009.
Pottie, L., Adamo, C. S., Beyens, A., Lütke, S., Tapaneeyaphan, P., De Clercq, A., Salmon, P. L., De Rycke, R., Gezdirici, A., Gulec, E. Y., Khan, N., Urquhart, J. E., Newman, W. G., Metcalfe, K., Efthymiou, S., Maroofian, R., Anwar, N., Maqbool, S., Rahman, F., Altweijri, I., Alsaleh, M., Abdullah, S. M., Al-Owain, M., Hashem, M., Houlden, H., Alkuraya, F. S., Sips, P., Sengle, G., & Callewaert, B. (2021). Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. American journal of human genetics, 108(12), 2386-2388. https://doi.org/10.1016/j.ajhg.2021.11.009
Pottie, Lore, et al. "Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome." American journal of human genetics vol. 108,12 (2021): 2386-2388. doi: https://doi.org/10.1016/j.ajhg.2021.11.009
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B. Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. Am J Hum Genet. 2021 Dec 02;108(12):2386-2388. doi: 10.1016/j.ajhg.2021.11.009. PMID: 34861177.
Copy Download .nbib Format: NLM
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

American journal of human genetics

Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B.
PMID: 34861177
Am J Hum Genet. 2021 Dec 02;108(12):2386-2388. doi: 10.1016/j.ajhg.2021.11.009.

No abstract available.

Cite
Pottie L, Adamo CS, Beyens A, et al. Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. Am J Hum Genet. 2021;108(12):2386-2388doi: 10.1016/j.ajhg.2021.11.009.
Pottie, L., Adamo, C. S., Beyens, A., Lütke, S., Tapaneeyaphan, P., De Clercq, A., Salmon, P. L., De Rycke, R., Gezdirici, A., Gulec, E. Y., Khan, N., Urquhart, J. E., Newman, W. G., Metcalfe, K., Efthymiou, S., Maroofian, R., Anwar, N., Maqbool, S., Rahman, F., Altweijri, I., Alsaleh, M., Abdullah, S. M., Al-Owain, M., Hashem, M., Houlden, H., Alkuraya, F. S., Sips, P., Sengle, G., & Callewaert, B. (2021). Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. American journal of human genetics, 108(12), 2386-2388. https://doi.org/10.1016/j.ajhg.2021.11.009
Pottie, Lore, et al. "Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome." American journal of human genetics vol. 108,12 (2021): 2386-2388. doi: https://doi.org/10.1016/j.ajhg.2021.11.009
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B. Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. Am J Hum Genet. 2021 Dec 02;108(12):2386-2388. doi: 10.1016/j.ajhg.2021.11.009. PMID: 34861177; PMCID: PMC8715164.
Copy Download .nbib Format: NLM
Showing 1 to 12 of 32 entries