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Annals of Human Genetics
|
December 23, 2017
A new association between CDK5RAP2 microcephaly and congenital cataracts
Ahmed Alfares, Ibtihal Alhufayti, Lamia Alsubaie, et al.
European Journal of Medical Genetics
|
November 20, 2023
Clinical and molecular features of four families with CLDN10-related HELIX syndrome
Ahmad Qudair, Maged Hussein, Mohammed Alowain, et al.
Molecular Genetics and Metabolism Reports
|
July 20, 2018
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients
Zuhair N Al-Hassnan, Ola A Khalifa, Dalal K Bubshait, et al.
Retina (Philadelphia, Pa.)
|
February 2, 2023
LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME
Moustafa S Magliyah, Faisal Almarek, Sawsan R Nowilaty, et al.
Nature Genetics
|
February 10, 2026
Building genomic medicine in Saudi Arabia
Ahmed Alfares, Faiqa Imtiaz, Sateesh Maddirevula, et al.
Molecular Vision
|
December 4, 2009
Molecular characterization of retinitis pigmentosa in Saudi Arabia
Mohammed A Aldahmesh, Leen Abu Safieh, Hisham Alkuraya, et al.
Genes
|
May 24, 2018
Validation of Ion Torrent<sup>TM</sup> Inherited Disease Panel with the PGM<sup>TM</sup> Sequencing Platform for Rapid and Comprehensive Mutation Detection
Abeer E Mustafa, Tariq Faquih, Batoul Baz, et al.
Ophthalmic Genetics
|
July 5, 2019
Optic neuropathy in classical methylmalonic acidemia
Mohammed AlOwain, Ola Ali Khalifa, Zahra Al Sahlawi, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2018
Warsaw breakage syndrome: Further clinical and genetic delineation
Ebba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, et al.
Human Genetics
|
November 24, 2016
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
Nisha Patel, Deepti Anand, Dorota Monies, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
Annals of Human Genetics
|
December 23, 2017
A new association between CDK5RAP2 microcephaly and congenital cataracts
Ahmed Alfares, Ibtihal Alhufayti, Lamia Alsubaie, et al.
European Journal of Medical Genetics
|
November 20, 2023
Clinical and molecular features of four families with CLDN10-related HELIX syndrome
Ahmad Qudair, Maged Hussein, Mohammed Alowain, et al.
Molecular Genetics and Metabolism Reports
|
July 20, 2018
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients
Zuhair N Al-Hassnan, Ola A Khalifa, Dalal K Bubshait, et al.
Retina (Philadelphia, Pa.)
|
February 2, 2023
LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME
Moustafa S Magliyah, Faisal Almarek, Sawsan R Nowilaty, et al.
Nature Genetics
|
February 10, 2026
Building genomic medicine in Saudi Arabia
Ahmed Alfares, Faiqa Imtiaz, Sateesh Maddirevula, et al.
Molecular Vision
|
December 4, 2009
Molecular characterization of retinitis pigmentosa in Saudi Arabia
Mohammed A Aldahmesh, Leen Abu Safieh, Hisham Alkuraya, et al.
Genes
|
May 24, 2018
Validation of Ion Torrent<sup>TM</sup> Inherited Disease Panel with the PGM<sup>TM</sup> Sequencing Platform for Rapid and Comprehensive Mutation Detection
Abeer E Mustafa, Tariq Faquih, Batoul Baz, et al.
Ophthalmic Genetics
|
July 5, 2019
Optic neuropathy in classical methylmalonic acidemia
Mohammed AlOwain, Ola Ali Khalifa, Zahra Al Sahlawi, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2018
Warsaw breakage syndrome: Further clinical and genetic delineation
Ebba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, et al.
Human Genetics
|
November 24, 2016
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
Nisha Patel, Deepti Anand, Dorota Monies, et al.
Page
of 2