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M Zein

Showing results (121-130 of 130) with videos related to

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Journal of Medical Genetics|April 21, 2016
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defectsThierry Vilboux, May Christine V Malicdan, Yun Min Chang, et al.
NPJ Genomic Medicine|October 29, 2024
SLC16A8 is a causal contributor to age-related macular degeneration riskNavid Nouri, Bailey Hannon Gussler, Amy Stockwell, et al.
American Journal of Human Genetics|June 4, 2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, et al.
Molecular Genetics and Metabolism|May 7, 2015
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam, Gretchen A Golas, Mariska Davids, et al.
BMC Health Services Research|February 24, 2010
A successful chronic care program in Al Ain-United Arab EmiratesLatifa M Baynouna, Amal I Shamsan, Tahira A Ali, et al.
Clinical Genetics|February 22, 2023
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophyRabia Faridi, Rizwan Yousaf, Shoujun Gu, et al.
The New England Journal of Medicine|March 20, 2024
Intrathecal Gene Therapy for Giant Axonal NeuropathyDiana X Bharucha-Goebel, Joshua J Todd, Dimah Saade, et al.
Investigative Ophthalmology & Visual Science|June 29, 2021
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille SyndromeMariana Matioli da Palma, Austin D Igelman, Cristy Ku, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndromeCarlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 11, 2019
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorderLloyd B Williams, Asif Javed, Amin Sabri, et al.
Pageof 13

Showing results (121-130 of 130) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 130 results.
Journal of Medical Genetics|April 21, 2016
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defectsThierry Vilboux, May Christine V Malicdan, Yun Min Chang, et al.
NPJ Genomic Medicine|October 29, 2024
SLC16A8 is a causal contributor to age-related macular degeneration riskNavid Nouri, Bailey Hannon Gussler, Amy Stockwell, et al.
American Journal of Human Genetics|June 4, 2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, et al.
Molecular Genetics and Metabolism|May 7, 2015
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam, Gretchen A Golas, Mariska Davids, et al.
BMC Health Services Research|February 24, 2010
A successful chronic care program in Al Ain-United Arab EmiratesLatifa M Baynouna, Amal I Shamsan, Tahira A Ali, et al.
Clinical Genetics|February 22, 2023
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophyRabia Faridi, Rizwan Yousaf, Shoujun Gu, et al.
The New England Journal of Medicine|March 20, 2024
Intrathecal Gene Therapy for Giant Axonal NeuropathyDiana X Bharucha-Goebel, Joshua J Todd, Dimah Saade, et al.
Investigative Ophthalmology & Visual Science|June 29, 2021
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille SyndromeMariana Matioli da Palma, Austin D Igelman, Cristy Ku, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndromeCarlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 11, 2019
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorderLloyd B Williams, Asif Javed, Amin Sabri, et al.
Pageof 13