Detalhe da pesquisa
1.
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
Clin Genet
; 105(2): 226-227, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37849383
2.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Mov Disord
; 2024 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581205
3.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
4.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med
; 25(1): 90-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318270
5.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165955
6.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
7.
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.
Am J Med Genet A
; 191(9): 2446-2450, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337918
8.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373813
9.
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
Hum Mutat
; 42(8): 1015-1029, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34082469
10.
Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder-A Report of Two Indian Cases.
Neuropediatrics
; 50(5): 313-317, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31295743
11.
Case Series of Infantile Tremor Syndrome in Tertiary Care Paediatric Centre from Southern India.
J Trop Pediatr
; 64(4): 284-288, 2018 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28977620
12.
In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population.
J Family Med Prim Care
; 13(1): 208-220, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38482315
13.
Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type.
J Pediatr Genet
; 13(2): 158-165, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38721578
14.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405817
15.
In Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G>T in Indian Population.
Cureus
; 15(6): e40366, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37456470
16.
Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings.
Adv Biomed Res
; 12: 148, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37564434
17.
Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox.
Ann Indian Acad Neurol
; 26(6): 977-979, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38229652
18.
Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India.
J Pediatr Genet
; 12(1): 32-41, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36684540
19.
Case Series of Ethylmalonic Encephalopathy from Southern India.
J Pediatr Genet
; 12(3): 213-218, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37575639
20.
Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases.
J Pediatr Genet
; 12(3): 199-205, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37575643