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Publications by Katta M. Girisha

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

American Journal of Human Genetics

English

Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

American Journal of Human Genetics

English

Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

English

Spectrum of Mutations in the SMPD1 Gene in Asian Indian Patients With Acid Sphingomyelinase Deficient Niemann-Pick Disease

American Journal of Medical Genetics, Part A

English

Introducing in AJMG Part a : Case Reports in Diverse Populations

American Journal of Medical Genetics, Part A

English

Cover Image, Volume 179A, Number 5, May 2019

American Journal of Medical Genetics, Part A

English