Detalhe da pesquisa
1.
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Hum Mutat
; 42(10): 1336-1350, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273913
2.
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
3.
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Indian J Med Res
; 142(4): 414-25, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26609033
4.
Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
Indian J Med Res
; 140(2): 221-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25297354
5.
Mitochondria in biology and medicine - 2023.
Mitochondrion
; 76: 101853, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423268
6.
Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation.
J Res Med Sci
; 17(6): 572-4, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23626637
7.
Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review.
J Assist Reprod Genet
; 28(2): 145-9, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20931274
8.
Prenatal diagnosis in India is not limited to sex selection.
Genet Med
; 17(1): 88, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356971
9.
Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.
Am J Med Genet A
; 152A(8): 2057-60, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20635354
10.
Novel and recurrent mutations in WISP3 and an atypical phenotype.
Am J Med Genet A
; 167A(10): 2481-4, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25988854
11.
Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India.
Indian Pediatr
; 56(7): 556-559, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31333208
12.
Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.
Indian J Med Res
; 136(6): 1048-50, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23391804
13.
Morphometric analysis of face in dysmorphology.
Comput Methods Programs Biomed
; 85(2): 165-72, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17118483
14.
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
Gene
; 599: 19-27, 2017 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27826022
15.
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
Neurol Genet
; 3(3): e148, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28589176
16.
Association of coronary artery disease with polymorphisms of angiotensin-converting enzyme and methylenetetrahydrofolate reductase gene.
Indian Heart J
; 58(4): 330-5, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-19039150
17.
Brothers with constrictive pericarditis - A novel mutation in a rare disease.
Indian Heart J
; 68 Suppl 2: S284-S287, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27751317
18.
Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis.
Ann Hematol
; 89(6): 625-6, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19727721
19.
Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.
Eur J Med Genet
; 58(3): 160-7, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25534560
20.
A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.
J Child Neurol
; 29(1): 122-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23349517