Detalhe da pesquisa
1.
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
J Med Genet
; 60(2): 204-211, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35477554
2.
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
3.
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
Am J Hum Genet
; 88(5): 608-15, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549340
4.
Consensus Statement of the Neurodevelopmental Pediatrics Chapter of Indian Academy of Pediatrics (IAP) on the Management of Children With Down Syndrome.
Indian Pediatr
; 60(4): 298-307, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36814128
5.
Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India.
Hum Immunol
; 83(4): 335-345, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074268
6.
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
J Neurol
; 266(8): 1919-1926, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069529
7.
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.
J Pediatr Genet
; 7(1): 9-13, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29441215
8.
Hypothermia for encephalopathy in low-income and middle-income countries: feasibility of whole-body cooling using a low-cost servo-controlled device.
BMJ Paediatr Open
; 2(1): e000245, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637198
9.
Hypothermia for encephalopathy in low and middle-income countries (HELIX): study protocol for a randomised controlled trial.
Trials
; 18(1): 432, 2017 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28923118
10.
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
JIMD Rep
; 21: 45-55, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25762492
11.
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.
J Clin Res Pediatr Endocrinol
; 6(2): 79-83, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24932600
12.
Neonatal encephalopathic cerebral injury in South India assessed by perinatal magnetic resonance biomarkers and early childhood neurodevelopmental outcome.
PLoS One
; 9(2): e87874, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24505327
13.
Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
JIMD Rep
; 21: 129, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26013749