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Showing 1–11 of 11 results

Advanced filters: Author: Uppala Radhakrishna Clear advanced filters

Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X INV (Y) mosaic male

Uppala Radhakrishna
Vinod Chunilal Shah
Niloufer Jamshed Chinoy
Research24 Jun 2005
Japanese journal of human genetics

Volume: 36, P: 251-255
Mutation in GLI3 in postaxial polydactyly type A

Uppala Radhakrishna
Anja Wild
Stylianos E. Antonarakis
Correspondence01 Nov 1997
Nature Genetics

Volume: 17, P: 269-271
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus

Uppala Radhakrishna
Uppala Ratnamala
Stylianos E Antonarakis
Research11 Apr 2012
European Journal of Human Genetics

Volume: 20, P: 1032-1036
Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine
Guilherme Munhoz Essenfelder
Gilles Waksman
Research01 Oct 2000
Nature Genetics

Volume: 26, P: 142-144
Epigenetically dysregulated genes and pathways implicated in the pathogenesis of non-syndromic high myopia

Sangeetha Vishweswaraiah
Joanna Swierkowska
Uppala Radhakrishna
ResearchOpen Access11 Mar 2019
Scientific Reports

Volume: 9, P: 1-12
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

Jean-Louis Blouin
Beth A. Dombroski
Ann E. Pulver
Research01 Sept 1998
Nature Genetics

Volume: 20, P: 70-73
Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Hamish S. Scott
Jun Kudoh
Stylianos E. Antonarakis
Research01 Jan 2001
Nature Genetics

Volume: 27, P: 59-63
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

Zoha Kibar
Marie-Pierre Dubé
Guy A Rouleau
Research15 Jun 2000
European Journal of Human Genetics

Volume: 8, P: 372-380
Dementia with Lewy bodies post-mortem brains reveal differentially methylated CpG sites with biomarker potential

Post-mortem brain tissue from patients with Dementia with Lewy bodies shows differentially methylated CpG sites and potential epigenetic associations with other conditions such as mood disorders and Parkinson’s Disease.

Xiaojian Shao
Sangeetha Vishweswaraiah
Stewart F. Graham
ResearchOpen Access22 Nov 2022
Communications Biology

Volume: 5, P: 1-11
Precision gynecologic oncology: circulating cell free DNA epigenomic analysis, artificial intelligence and the accurate detection of ovarian cancer

Ray O. Bahado-Singh
Amin Ibrahim
Sangeetha Vishweswaraiah
ResearchOpen Access03 Nov 2022
Scientific Reports

Volume: 12, P: 1-9
The imperative of clinical and molecular research on neonatal opioid withdrawal syndrome

Raghu P. Metpally
Sarath Krishnamurthy
Wade H. Berrettini
Editorial10 Sept 2019
Molecular Psychiatry

Volume: 24, P: 1568-1571