Detalhe da pesquisa
1.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet
; 59(9): 878-887, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34656997
2.
A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration.
Neuropediatrics
; 51(4): 302-306, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32464672
3.
Clinical profile of patients with rolandic epilepsy at a clinic in rural Maharashtra.
J Family Med Prim Care
; 10(3): 1263-1266, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-34041163
4.
Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report.
Cureus
; 13(11): e19682, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34976470
5.
Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1.
J Pediatr Genet
; 10(3): 213-221, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34504725
6.
Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.
Front Immunol
; 11: 612316, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33365035
7.
CEDNIK Syndrome: Report of an Ultra-Rare Case from India.
Neurol India
; 69(6): 1861-1862, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34979712