Associated Papers
Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.
Tkemaladze T et al.
American Journal of Medical Genetics. Part A, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Infantile spinal muscular atrophy with respiratory distress type 1: a case report.
AlSaman A et al.
Journal of Child Neurology, 2010
Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature.
Lingappa L et al.
Annals of Indian Academy of Neurology, 0
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