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Publications by Khalda Amr

Whole Exome Sequencing Identifies a New Mutation in the SLC19A2 Gene Leading to Thiamine‐responsive Megaloblastic Anemia in an Egyptian Family

Molecular genetics & genomic medicine

Molecular Biology

English

Related publications

Infantile-Onset Thiamine Responsive Megaloblastic Anemia Syndrome With SLC19A2 Mutation: A Case Report

Archivos Argentinos de Pediatria

English

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Journal of Human Genetics

English

Whole-Exome Sequencing Identifies a Potential TTN Mutation in a Multiplex Family With Inguinal Hernia

Hernia : the journal of hernias and abdominal wall surgery

English

Whole-Exome Sequencing in a Japanese Family With Highly Aggregated Diabetes Identifies a Candidate Susceptibility Mutation in ADAMTSL3

Diabetes Research and Clinical Practice

Internal Medicine

English

Exome Sequencing Identifies MPL as a Causative Gene in Familial Aplastic Anemia

English

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

BioMed Research International

Molecular Biology

English

Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy

Multidisciplinary

English

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

American Journal of Human Genetics

English

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

English