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Clinico-pathological significance of TNF alpha-induced protein3 (TNFAIP3) in Middle Eastern colorectal carcinoma.

Clinical epigenetics

Bavi P, Abubaker J, Al-Sanea N, Abduljabbar A, Ashari LH, Alhomoud S, Al-Dayel F, Uddin S, Siraj AK, Al-Kuraya KS.
PMID: 22704353
Clin Epigenetics. 2011 Aug;2(2):417-8. doi: 10.1007/s13148-011-0049-z. Epub 2011 Jul 14.

No abstract available.

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Bavi P, Abubaker J, Al-Sanea N, et al. Clinico-pathological significance of TNF alpha-induced protein3 (TNFAIP3) in Middle Eastern colorectal carcinoma. Clin Epigenetics. 2011;2(2):417-8doi: 10.1007/s13148-011-0049-z.
Bavi, P., Abubaker, J., Al-Sanea, N., Abduljabbar, A., Ashari, L. H., Alhomoud, S., Al-Dayel, F., Uddin, S., Siraj, A. K., & Al-Kuraya, K. S. (2011). Clinico-pathological significance of TNF alpha-induced protein3 (TNFAIP3) in Middle Eastern colorectal carcinoma. Clinical epigenetics, 2(2), 417-8. https://doi.org/10.1007/s13148-011-0049-z
Bavi, Prashant, et al. "Clinico-pathological significance of TNF alpha-induced protein3 (TNFAIP3) in Middle Eastern colorectal carcinoma." Clinical epigenetics vol. 2,2 (2011): 417-8. doi: https://doi.org/10.1007/s13148-011-0049-z
Bavi P, Abubaker J, Al-Sanea N, Abduljabbar A, Ashari LH, Alhomoud S, Al-Dayel F, Uddin S, Siraj AK, Al-Kuraya KS. Clinico-pathological significance of TNF alpha-induced protein3 (TNFAIP3) in Middle Eastern colorectal carcinoma. Clin Epigenetics. 2011 Aug;2(2):417-8. doi: 10.1007/s13148-011-0049-z. Epub 2011 Jul 14. PMID: 22704353; PMCID: PMC3365399.
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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.

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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.
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Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.

Scientific reports

Ali A, Mistry BV, Ahmed HA, Abdulla R, Amer HA, Prince A, Alazami AM, Alkuraya FS, Assiri A.
PMID: 30068992
Sci Rep. 2018 Aug 01;8(1):11779. doi: 10.1038/s41598-018-29836-2.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.

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Ali A, Mistry BV, Ahmed HA, et al. Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice. Sci Rep. 2018;8(1):11779doi: 10.1038/s41598-018-29836-2.
Ali, A., Mistry, B. V., Ahmed, H. A., Abdulla, R., Amer, H. A., Prince, A., Alazami, A. M., Alkuraya, F. S., & Assiri, A. (2018). Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice. Scientific reports, 8(1), 11779. https://doi.org/10.1038/s41598-018-29836-2
Ali, Asmaa, et al. "Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice." Scientific reports vol. 8,1 (2018): 11779. doi: https://doi.org/10.1038/s41598-018-29836-2
Ali A, Mistry BV, Ahmed HA, Abdulla R, Amer HA, Prince A, Alazami AM, Alkuraya FS, Assiri A. Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice. Sci Rep. 2018 Aug 01;8(1):11779. doi: 10.1038/s41598-018-29836-2. PMID: 30068992; PMCID: PMC6070554.
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Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.

Nature medicine

Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM.
PMID: 31996837
Nat Med. 2020 Feb;26(2):300. doi: 10.1038/s41591-020-0773-z.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Chivukula RR, Montoro DT, Leung HM, et al. Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nat Med. 2020;26(2):300doi: 10.1038/s41591-020-0773-z.
Chivukula, R. R., Montoro, D. T., Leung, H. M., Yang, J., Shamseldin, H. E., Taylor, M. S., Dougherty, G. W., Zariwala, M. A., Carson, J., Daniels, M. L. A., Sears, P. R., Black, K. E., Hariri, L. P., Almogarri, I., Frenkel, E. M., Vinarsky, V., Omran, H., Knowles, M. R., Tearney, G. J., Alkuraya, F. S., & Sabatini, D. M. (2020). Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nature medicine, 26(2), 300. https://doi.org/10.1038/s41591-020-0773-z
Chivukula, Raghu R, et al. "Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance." Nature medicine vol. 26,2 (2020): 300. doi: https://doi.org/10.1038/s41591-020-0773-z
Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM. Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nat Med. 2020 Feb;26(2):300. doi: 10.1038/s41591-020-0773-z. PMID: 31996837; PMCID: PMC7545464.
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Hoarse voice in children as the presenting feature of ECM1-related lipoid proteinosis.

American journal of medical genetics. Part A

Patel N, Nabil A, Alshammari M, Alkuraya FS.
PMID: 34159730
Am J Med Genet A. 2021 Dec;185(12):3924-3925. doi: 10.1002/ajmg.a.62406. Epub 2021 Jun 23.

No abstract available.

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Patel N, Nabil A, Alshammari M, et al. Hoarse voice in children as the presenting feature of ECM1-related lipoid proteinosis. Am J Med Genet A. 2021;185(12):3924-3925doi: 10.1002/ajmg.a.62406.
Patel, N., Nabil, A., Alshammari, M., & Alkuraya, F. S. (2021). Hoarse voice in children as the presenting feature of ECM1-related lipoid proteinosis. American journal of medical genetics. Part A, 185(12), 3924-3925. https://doi.org/10.1002/ajmg.a.62406
Patel, Nisha, et al. "Hoarse voice in children as the presenting feature of ECM1-related lipoid proteinosis." American journal of medical genetics. Part A vol. 185,12 (2021): 3924-3925. doi: https://doi.org/10.1002/ajmg.a.62406
Patel N, Nabil A, Alshammari M, Alkuraya FS. Hoarse voice in children as the presenting feature of ECM1-related lipoid proteinosis. Am J Med Genet A. 2021 Dec;185(12):3924-3925. doi: 10.1002/ajmg.a.62406. Epub 2021 Jun 23. PMID: 34159730.
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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

Clinical genetics

Palmer EE, Whitton C, Hashem MO, Clark RD, Ramanathan S, Starr LJ, Velasco D, De Dios JK, Singh E, Cormier-Daire V, Chopra M, Rodan LH, Nellaker C, Lakhani S, Mallack EJ, Panzer K, Sidhu A, Wentzensen IM, Lacombe D, Michaud V, Alkuraya FS.
PMID: 34212383
Clin Genet. 2021 Oct;100(4):468-477. doi: 10.1111/cge.14022. Epub 2021 Jul 13.

We describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the "HX motif" of exon 7 of ATN1. We previously proposed that individuals with such variants should be considered as being...

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Palmer EE, Whitton C, Hashem MO, et al. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021;100(4):468-477doi: 10.1111/cge.14022.
Palmer, E. E., Whitton, C., Hashem, M. O., Clark, R. D., Ramanathan, S., Starr, L. J., Velasco, D., De Dios, J. K., Singh, E., Cormier-Daire, V., Chopra, M., Rodan, L. H., Nellaker, C., Lakhani, S., Mallack, E. J., Panzer, K., Sidhu, A., Wentzensen, I. M., Lacombe, D., Michaud, V., & Alkuraya, F. S. (2021). CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clinical genetics, 100(4), 468-477. https://doi.org/10.1111/cge.14022
Palmer, Elizabeth E, et al. "CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum." Clinical genetics vol. 100,4 (2021): 468-477. doi: https://doi.org/10.1111/cge.14022
Palmer EE, Whitton C, Hashem MO, Clark RD, Ramanathan S, Starr LJ, Velasco D, De Dios JK, Singh E, Cormier-Daire V, Chopra M, Rodan LH, Nellaker C, Lakhani S, Mallack EJ, Panzer K, Sidhu A, Wentzensen IM, Lacombe D, Michaud V, Alkuraya FS. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021 Oct;100(4):468-477. doi: 10.1111/cge.14022. Epub 2021 Jul 13. PMID: 34212383.
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Homozygosity mapping: a game-changer for autosomal recessive diseases.

Nature reviews. Genetics

Alkuraya FS.
PMID: 34741151
Nat Rev Genet. 2022 Jan;23(1):2-3. doi: 10.1038/s41576-021-00433-w.

No abstract available.

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Alkuraya FS. Homozygosity mapping: a game-changer for autosomal recessive diseases. Nat Rev Genet. 2022;23(1):2-3doi: 10.1038/s41576-021-00433-w.
Alkuraya, F. S. (2022). Homozygosity mapping: a game-changer for autosomal recessive diseases. Nature reviews. Genetics, 23(1), 2-3. https://doi.org/10.1038/s41576-021-00433-w
Alkuraya, Fowzan S. "Homozygosity mapping: a game-changer for autosomal recessive diseases." Nature reviews. Genetics vol. 23,1 (2022): 2-3. doi: https://doi.org/10.1038/s41576-021-00433-w
Alkuraya FS. Homozygosity mapping: a game-changer for autosomal recessive diseases. Nat Rev Genet. 2022 Jan;23(1):2-3. doi: 10.1038/s41576-021-00433-w. PMID: 34741151.
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MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.

American journal of medical genetics. Part A

Alsaif HS, Alshehri A, Sulaiman RA, Al-Hindi H, Guzmán-Vega FJ, Arold ST, Alkuraya FS.
PMID: 33755318
Am J Med Genet A. 2021 Jul;185(7):2131-2135. doi: 10.1002/ajmg.a.62188. Epub 2021 Mar 23.

Rhabdomyolysis is a serious medical condition characterized by muscle injury, and there are recognized genetic causes especially in recurrent forms. The majority of these cases, however, remain unexplained. Here, we describe a patient with recurrent rhabdomyolysis in whom extensive...

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Alsaif HS, Alshehri A, Sulaiman RA, et al. MYH1 is a candidate gene for recurrent rhabdomyolysis in humans. Am J Med Genet A. 2021;185(7):2131-2135doi: 10.1002/ajmg.a.62188.
Alsaif, H. S., Alshehri, A., Sulaiman, R. A., Al-Hindi, H., Guzmán-Vega, F. J., Arold, S. T., & Alkuraya, F. S. (2021). MYH1 is a candidate gene for recurrent rhabdomyolysis in humans. American journal of medical genetics. Part A, 185(7), 2131-2135. https://doi.org/10.1002/ajmg.a.62188
Alsaif, Hessa S, et al. "MYH1 is a candidate gene for recurrent rhabdomyolysis in humans." American journal of medical genetics. Part A vol. 185,7 (2021): 2131-2135. doi: https://doi.org/10.1002/ajmg.a.62188
Alsaif HS, Alshehri A, Sulaiman RA, Al-Hindi H, Guzmán-Vega FJ, Arold ST, Alkuraya FS. MYH1 is a candidate gene for recurrent rhabdomyolysis in humans. Am J Med Genet A. 2021 Jul;185(7):2131-2135. doi: 10.1002/ajmg.a.62188. Epub 2021 Mar 23. PMID: 33755318.
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ASTL is mutated in female infertility.

Human genetics

Maddirevula S, Coskun S, Al-Qahtani M, Aboyousef O, Alhassan S, Aldeery M, Alkuraya FS.
PMID: 34704130
Hum Genet. 2021 Oct 26; doi: 10.1007/s00439-021-02388-8. Epub 2021 Oct 26.

Female infertility is a relatively common phenotype with a growing number of single gene causes although these account for only a minority of cases. Here, we report a consanguineous family in which adult females who are homozygous for a...

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Maddirevula S, Coskun S, Al-Qahtani M, et al. ASTL is mutated in female infertility. Hum Genet. 2021;doi: 10.1007/s00439-021-02388-8.
Maddirevula, S., Coskun, S., Al-Qahtani, M., Aboyousef, O., Alhassan, S., Aldeery, M., & Alkuraya, F. S. (2021). ASTL is mutated in female infertility. Human genetics, . https://doi.org/10.1007/s00439-021-02388-8
Maddirevula, Sateesh, et al. "ASTL is mutated in female infertility." Human genetics vol. (2021). doi: https://doi.org/10.1007/s00439-021-02388-8
Maddirevula S, Coskun S, Al-Qahtani M, Aboyousef O, Alhassan S, Aldeery M, Alkuraya FS. ASTL is mutated in female infertility. Hum Genet. 2021 Oct 26; doi: 10.1007/s00439-021-02388-8. Epub 2021 Oct 26. PMID: 34704130.
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Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Frontiers in genetics

Maddirevula S, Shamseldin HE, Sirr A, AlAbdi L, Lo RS, Ewida N, Al-Qahtani M, Hashem M, Abdulwahab F, Aboyousef O, Kaya N, Monies D, Salem MH, Al Harbi N, Aldhalaan HM, Alzaidan H, Almanea HM, Alsalamah AK, Al Mutairi F, Ismail S, Abdel-Salam GMH, Alhashem A, Asery A, Faqeih E, AlQassmi A, Al-Hamoudi W, Algoufi T, Shagrani M, Dudley AM, Alkuraya FS.
PMID: 33456446
Front Genet. 2020 Dec 31;11:580484. doi: 10.3389/fgene.2020.580484. eCollection 2020.

There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of pathogenic variants in unrelated...

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Maddirevula S, Shamseldin HE, Sirr A, et al. Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update. Front Genet. 2020;11:580484doi: 10.3389/fgene.2020.580484.
Maddirevula, S., Shamseldin, H. E., Sirr, A., AlAbdi, L., Lo, R. S., Ewida, N., Al-Qahtani, M., Hashem, M., Abdulwahab, F., Aboyousef, O., Kaya, N., Monies, D., Salem, M. H., Al Harbi, N., Aldhalaan, H. M., Alzaidan, H., Almanea, H. M., Alsalamah, A. K., Al Mutairi, F., Ismail, S., Abdel-Salam, G. M. H., Alhashem, A., Asery, A., Faqeih, E., AlQassmi, A., Al-Hamoudi, W., Algoufi, T., Shagrani, M., Dudley, A. M., & Alkuraya, F. S. (2020). Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update. Frontiers in genetics, 11580484. https://doi.org/10.3389/fgene.2020.580484
Maddirevula, Sateesh, et al. "Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update." Frontiers in genetics vol. 11 (2020): 580484. doi: https://doi.org/10.3389/fgene.2020.580484
Maddirevula S, Shamseldin HE, Sirr A, AlAbdi L, Lo RS, Ewida N, Al-Qahtani M, Hashem M, Abdulwahab F, Aboyousef O, Kaya N, Monies D, Salem MH, Al Harbi N, Aldhalaan HM, Alzaidan H, Almanea HM, Alsalamah AK, Al Mutairi F, Ismail S, Abdel-Salam GMH, Alhashem A, Asery A, Faqeih E, AlQassmi A, Al-Hamoudi W, Algoufi T, Shagrani M, Dudley AM, Alkuraya FS. Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update. Front Genet. 2020 Dec 31;11:580484. doi: 10.3389/fgene.2020.580484. eCollection 2020. PMID: 33456446; PMCID: PMC7806527.
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Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Genome medicine

Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X, Alkuraya FS.
PMID: 34645488
Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0.

BACKGROUND: Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the...

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Shamseldin HE, AlAbdi L, Maddirevula S, et al. Lethal variants in humans: lessons learned from a large molecular autopsy cohort. Genome Med. 2021;13(1):161doi: 10.1186/s13073-021-00973-0.
Shamseldin, H. E., AlAbdi, L., Maddirevula, S., Alsaif, H. S., Alzahrani, F., Ewida, N., Hashem, M., Abdulwahab, F., Abuyousef, O., Kuwahara, H., Gao, X., & Alkuraya, F. S. (2021). Lethal variants in humans: lessons learned from a large molecular autopsy cohort. Genome medicine, 13(1), 161. https://doi.org/10.1186/s13073-021-00973-0
Shamseldin, Hanan E, et al. "Lethal variants in humans: lessons learned from a large molecular autopsy cohort." Genome medicine vol. 13,1 (2021): 161. doi: https://doi.org/10.1186/s13073-021-00973-0
Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X, Alkuraya FS. Lethal variants in humans: lessons learned from a large molecular autopsy cohort. Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0. PMID: 34645488; PMCID: PMC8511862.
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High Expression of Cyclin D1 is an Independent Marker for Favorable Prognosis in Middle Eastern Breast Cancer.

OncoTargets and therapy

Siraj AK, Parvathareddy SK, Annaiyappanaidu P, Ahmed SO, Siraj N, Tulbah A, Al-Dayel F, Ajarim D, Al-Kuraya KS.
PMID: 34040395
Onco Targets Ther. 2021 May 19;14:3309-3318. doi: 10.2147/OTT.S309091. eCollection 2021.

PURPOSE: The cyclin D1 protein regulates cell cycle progression which is mediated by its interactions with cyclin-dependent kinases. Over-expression of cyclin D1 has been observed in several human cancers. This study was conducted to evaluate cyclin D1 expression in...

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Siraj AK, Parvathareddy SK, Annaiyappanaidu P, et al. High Expression of Cyclin D1 is an Independent Marker for Favorable Prognosis in Middle Eastern Breast Cancer. Onco Targets Ther. 2021;14:3309-3318doi: 10.2147/OTT.S309091.
Siraj, A. K., Parvathareddy, S. K., Annaiyappanaidu, P., Ahmed, S. O., Siraj, N., Tulbah, A., Al-Dayel, F., Ajarim, D., & Al-Kuraya, K. S. (2021). High Expression of Cyclin D1 is an Independent Marker for Favorable Prognosis in Middle Eastern Breast Cancer. OncoTargets and therapy, 143309-3318. https://doi.org/10.2147/OTT.S309091
Siraj, Abdul K, et al. "High Expression of Cyclin D1 is an Independent Marker for Favorable Prognosis in Middle Eastern Breast Cancer." OncoTargets and therapy vol. 14 (2021): 3309-3318. doi: https://doi.org/10.2147/OTT.S309091
Siraj AK, Parvathareddy SK, Annaiyappanaidu P, Ahmed SO, Siraj N, Tulbah A, Al-Dayel F, Ajarim D, Al-Kuraya KS. High Expression of Cyclin D1 is an Independent Marker for Favorable Prognosis in Middle Eastern Breast Cancer. Onco Targets Ther. 2021 May 19;14:3309-3318. doi: 10.2147/OTT.S309091. eCollection 2021. PMID: 34040395; PMCID: PMC8141388.
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