Detalhe da pesquisa
1.
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Hum Genomics
; 18(1): 46, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38730490
2.
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.
Am J Med Genet A
; 185(5): 1606-1609, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33569879
3.
Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family.
Hemoglobin
; 42(2): 141-142, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29651865
4.
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Hum Mutat
; 36(11): 1021-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123727
5.
Experiences from Garbha-Swasthya helpline.
Indian J Public Health
; 59(2): 149-52, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26021655
6.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Hum Mutat
; 35(5): 521-31, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599544
7.
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
JIMD Rep
; 65(2): 85-101, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38444573
8.
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
Proc Natl Acad Sci U S A
; 107(7): 3105-10, 2010 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20133622
9.
Is germline transmission of MAD2 gene deletion associated with human fetal loss?
Mol Hum Reprod
; 18(11): 554-62, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22869558
10.
Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India.
Birth Defects Res A Clin Mol Teratol
; 91(9): 848-56, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21770021
11.
Nutrigenetic determinants of neural tube defects in India.
Indian Pediatr
; 46(6): 467-75, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19556657
12.
Bartsocas-Papas syndrome.
Indian Pediatr
; 45(9): 780-2, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18820389
13.
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience.
JIMD Rep
; 35: 47-52, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27928775
14.
Maternal Serum Aneuploidy Screen and Adverse Pregnancy Outcomes.
J Obstet Gynaecol India
; 66(Suppl 1): 141-8, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27651593
15.
Many faces of Hirschsprung's disease.
Indian Pediatr
; 41(11): 1115-23, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15591661
16.
Role of fetal autopsy as a complementary tool to prenatal ultrasound.
J Matern Fetal Neonatal Med
; 27(16): 1688-92, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24313561
17.
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
JIMD Rep
; 12: 51-63, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-23852624
18.
Johanson-blizzard syndrome.
Indian Pediatr
; 50(5): 510-2, 2013 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23778732
19.
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Nat Genet
; 45(8): 947-50, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23770608
20.
A survey among psychiatrists regarding psychotropic drug use in reproductive age women.
Asian J Psychiatr
; 4(4): 272-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23051161