Detalhe da pesquisa
1.
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Clin Genet
; 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374498
2.
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
Am J Med Genet A
; 194(3): e63422, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37876363
3.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Am J Hum Genet
; 103(6): 948-967, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526868
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.
Clinical and molecular characterization of four patients with Robinow syndrome from different families.
Am J Med Genet A
; 185(4): 1105-1112, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33496066
6.
Bosley-Salih-Alorainy syndrome in patients from India.
Am J Med Genet A
; 182(11): 2699-2703, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32864817
7.
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79.
J Hum Genet
; 63(8): 927-933, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735986
8.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A
; 176(5): 1128-1136, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681090
9.
Noonan syndrome in diverse populations.
Am J Med Genet A
; 173(9): 2323-2334, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748642
10.
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
11.
Familial 7q11.23 duplication with variable phenotype.
Am J Med Genet A
; 167A(11): 2727-30, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26109321
12.
Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.
Am J Med Genet A
; 167A(8): 1927-31, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25898978
13.
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.
Am J Med Genet A
; 164A(11): 2857-62, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099528
14.
Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.
J Pediatr Genet
; 12(1): 58-63, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36684549
15.
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Eur J Hum Genet
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38114583
16.
Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India.
Am J Med Genet A
; 158A(7): 1729-34, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22628065
17.
Confirmation of the Zechi-Ceide syndrome.
Am J Med Genet A
; 158A(6): 1467-71, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22585531
18.
Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene.
Indian J Pediatr
; 89(6): 594-596, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032020
19.
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Sci Rep
; 11(1): 764, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436942
20.
Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up.
BJR Case Rep
; 3(2): 20150356, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-30363289