Detalhe da pesquisa
1.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
2.
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
3.
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
J Pediatr
; 216: 44-50.e5, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31606152
4.
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
J Hum Genet
; 65(11): 971-984, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651481
5.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med
; 21(9): 2043-2058, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842647
6.
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
7.
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
J Hepatol
; 67(6): 1253-1264, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28733223
8.
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
9.
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Am J Med Genet A
; 170(10): 2719-30, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27338287
10.
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Am J Med Genet A
; 164A(11): 2793-801, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25252036
11.
Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene.
Indian J Med Res
; 140(1): 55-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25222778
12.
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
13.
Addressing Diagnostic Gaps and Priorities of the Global Rare Diseases Community: Recommendations from the IRDiRC Diagnostics Scientific Committee.
Eur J Med Genet
; : 104951, 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38848991
14.
Antenatal Phenotype of Desbuquois Dysplasia.
Indian J Pediatr
; 90(1): 83-86, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331722
15.
Next-Generation Sequencing in Unexplained Intellectual Disability.
Indian J Pediatr
; 2023 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804371
16.
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome.
Eur J Med Genet
; 66(9): 104822, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595943
17.
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
18.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Front Public Health
; 11: 1248260, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37822540
19.
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Front Public Health
; 11: 1079601, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36935719
20.
Indian Undiagnosed Diseases Program (I-UDP) - The Unmet Need.
Indian Pediatr
; 59(3): 198-200, 2022 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35105821