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Publications by Sheela Nampoothiri
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
American Journal of Human Genetics
Genetics
Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
American Journal of Human Genetics
Genetics
Genotype and Phenotype in Patients With Noonan Syndrome and a RIT1 Mutation
Genetics in Medicine
Medicine
Genetics
Brief Report: Peripheral Osteolysis in Adults Linked toASAH1(Acid Ceramidase) Mutations: A New Presentation of Farber's Disease
Arthritis and Rheumatology
Rheumatology
Allergy
Immunology
Musculocontractural Ehlers-Danlos Syndrome (Former EDS Type VIB) and Adducted Thumb Clubfoot Syndrome (ATCS) Represent a Single Clinical Entity Caused by Mutations in the Dermatan-4-Sulfotransferase 1 Encoding CHST14 Gene
Human Mutation
Genetics
Mutation Update for the GPC3 Gene Involved in Simpson-Golabi-Behmel Syndrome and Review of the Literature
Human Mutation
Genetics
Cover Image, Volume 179A, Number 5, May 2019
American Journal of Medical Genetics, Part A
Genetics
