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Koumudi Godbole

Showing results (11-20 of 25) with videos related to

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JIMD Reports|December 9, 2016
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian ExperienceJayesh Sheth, Mehul Mistri, Krati Shah, et al.
American Journal of Medical Genetics. Part A|February 11, 2021
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthoodSweta Das, Koumudi Godbole, Suneetha Susan Cleave Abraham, et al.
Molecular Human Reproduction|August 8, 2012
Is germline transmission of MAD2 gene deletion associated with human fetal loss?Somsubhra Nath, Mrinalini Moghe, Abhishek Chowdhury, et al.
Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India|November 3, 2012
Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western IndiaKoumudi Godbole, J Hemavathi, Neelam Vaid, et al.
The Journal of Clinical Endocrinology and Metabolism|July 16, 2010
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadismSavitha Shastry, Vinaya Simha, Koumudi Godbole, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|July 20, 2011
Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in IndiaKoumudi Godbole, Panjalingam Gayathri, Smita Ghule, et al.
JIMD Reports|March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
JIMD Reports|July 16, 2013
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facilityJayesh Sheth, Mehul Mistri, Frenny Sheth, et al.
Human Mutation|July 1, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney DiseaseJulia Vodopiutz, Rainer Seidl, Daniela Prayer, et al.
Nature Genetics|June 18, 2013
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophyMichael N Weedon, Sian Ellard, Marc J Prindle, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
JIMD Reports|December 9, 2016
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian ExperienceJayesh Sheth, Mehul Mistri, Krati Shah, et al.
American Journal of Medical Genetics. Part A|February 11, 2021
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthoodSweta Das, Koumudi Godbole, Suneetha Susan Cleave Abraham, et al.
Molecular Human Reproduction|August 8, 2012
Is germline transmission of MAD2 gene deletion associated with human fetal loss?Somsubhra Nath, Mrinalini Moghe, Abhishek Chowdhury, et al.
Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India|November 3, 2012
Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western IndiaKoumudi Godbole, J Hemavathi, Neelam Vaid, et al.
The Journal of Clinical Endocrinology and Metabolism|July 16, 2010
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadismSavitha Shastry, Vinaya Simha, Koumudi Godbole, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|July 20, 2011
Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in IndiaKoumudi Godbole, Panjalingam Gayathri, Smita Ghule, et al.
JIMD Reports|March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
JIMD Reports|July 16, 2013
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facilityJayesh Sheth, Mehul Mistri, Frenny Sheth, et al.
Human Mutation|July 1, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney DiseaseJulia Vodopiutz, Rainer Seidl, Daniela Prayer, et al.
Nature Genetics|June 18, 2013
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophyMichael N Weedon, Sian Ellard, Marc J Prindle, et al.
Pageof 3