Detalhe da pesquisa
1.
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.
J Hum Genet
; 67(3): 133-136, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34621002
2.
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Hum Mutat
; 42(4): e15-e61, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502066
3.
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
4.
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Clin Genet
; 100(5): 542-550, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302356
5.
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
BMC Med Genet
; 21(1): 216, 2020 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33138774
6.
Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.
Am J Med Genet A
; 182(5): 953-956, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32128942
7.
The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.
Am J Med Genet A
; 179(3): 480-485, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30690882
8.
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).
Ann Hum Genet
; 82(5): 309-317, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29774539
9.
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Brain
; 139(Pt 3): 782-94, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912632
10.
Is the diagnostic yield influenced by the indication for fetal autopsy?
Am J Med Genet A
; 170(8): 2119-26, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27197608
11.
Carrier screening of spinal muscular atrophy in North Indian population and its public health implications.
Clin Genet
; 98(2): 198-199, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32666593
12.
Citrin deficiency: A treatable cause of acute psychosis in adults.
Neurol India
; 63(2): 220-2, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25947987
13.
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.
Eur J Hum Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605122
14.
Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing.
Indian J Med Res
; 147(4): 422-426, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29998879
15.
The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.
Eur J Hum Genet
; 2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030918
16.
A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia.
Case Rep Genet
; 2023: 7974886, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37876589
17.
Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis.
J Pediatr Genet
; 11(1): 63-67, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35186393
18.
Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.
Indian Pediatr
; 59(6): 463-466, 2022 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35695141
19.
Hypervitaminosis D and Acute Interstitial Nephritis: Tale of Injections.
Indian J Nephrol
; 32(1): 71-75, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35283578
20.
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Eur J Med Genet
; 65(3): 104447, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35144014