Detalhe da pesquisa
1.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain
; 146(12): 4880-4890, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37769650
2.
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.
Hum Genet
; 142(3): 457-476, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36697720
3.
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
Clin Genet
; 99(6): 823-828, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33583041
4.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277047
5.
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
Am J Med Genet A
; 182(1): 183-188, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31670473
6.
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Clin Genet
; 95(3): 398-402, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30394532
7.
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.
Am J Med Genet A
; 179(6): 908-914, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896082
8.
Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
J Obstet Gynaecol Res
; 45(4): 830-840, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30632238
9.
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV).
Neuroophthalmology
; 43(5): 310-312, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31741675
10.
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Mod Pathol
; 31(7): 1116-1130, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29463882
11.
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 94(1): 62-72, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360808
12.
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Am J Med Genet A
; 173(3): 588-595, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28127940
13.
Persistent Left Superior Vena Cava in Fetuses: An Autopsy Series.
Fetal Pediatr Pathol
; 36(4): 304-310, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28569558
14.
Mutations in ECEL1 cause distal arthrogryposis type 5D.
Am J Hum Genet
; 92(1): 150-6, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261301
15.
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.
Mol Genet Genomic Med
; 12(2): e2402, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38400599
16.
Biotinidase deficiency: an atypical presentation.
Natl Med J India
; 26(1): 29-30, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24066991
17.
Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.
J Clin Pathol
; 74(10): 620-624, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33361148
18.
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
Endocrine
; 71(1): 189-198, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948948
19.
Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
Neuromuscul Disord
; 31(5): 431-441, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33741225
20.
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Kidney Int Rep
; 6(11): 2862-2884, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34805638