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Human Genetics|September 27, 2022
PMEL is mutated in oculocutaneous albinismLama AlAbdi, Muneera Alshammari, Rana Helaby, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2021
Residual risk for additional recessive diseases in consanguineous couplesLama AlAbdi, Shatha Alrashseed, Ahood Alsulaiman, et al.Clinical Genetics|January 4, 2020
Confirming the recessive inheritance of PERP-related erythrokeratodermaNisha Patel, Salim Alkeraye, Eman Alobeid, et al.Molecular Genetics & Genomic Medicine|May 5, 2021
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examinationArif O Khan, Lama AlAbdi, Nisha Patel, et al.Human Genetics|March 5, 2020
CNP deficiency causes severe hypomyelinating leukodystrophy in humansLama Al-Abdi, Fathiya Al Murshedi, Alaa Elmanzalawy, et al.Clinical Genetics|February 20, 2026
WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated CardiomyopathyLama Alabdi, Benjamin Cogne, Ali S Almasood, et al.Clinical Genetics|February 28, 2024
A founder variant expands the phenotype of WNT7B-related PDAC syndromeLama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, et al.Journal of Medical Genetics|November 10, 2022
Homozygous truncating variant in <i>MAN2A2</i> causes a novel congenital disorder of glycosylation with neurological involvementSonal Mahajan, Bobby George Ng, Lama AlAbdi, et al.Human Molecular Genetics|September 5, 2020
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficitsCongyao Zha, Carole A Farah, Richard J Holt, et al.Nature Communications|August 29, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized familiesLama AlAbdi, Sateesh Maddirevula, Hanan E Shamseldin, et al.Pageof 2