Nadia Hashmi-Al

Muscat, MA, Oman

Last Updated: 09/26/2026

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Found 9 publications

LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.

LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.

Journal: European journal of medical genetics

Published: January 23, 2023

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination

Journal: Journal of clinical research in pediatric endocrinology

Published: November 05, 2021

Further phenotypic delineation of Alazami syndrome.

Further phenotypic delineation of Alazami syndrome.

Journal: American journal of medical genetics. Part A

Published: September 22, 2021

Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.

Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.

Journal: Clinical genetics

Published: September 07, 2020

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Journal: European journal of medical genetics

Published: August 08, 2018

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.

Journal: American journal of medical genetics. Part A

Published: June 24, 2018

Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience.

Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience.

Journal: JIMD reports

Published: June 08, 2018

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.

Journal: Case reports in genetics

Published: April 26, 2018

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

Journal: Clinical dysmorphology

Published: November 29, 2012

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Last Updated: 09/26/2026