Detalhe da pesquisa
1.
Diagnosis of 22q11.2 deletion syndrome in children with congenital heart diseases and facial dysmorphisms.
Med J Armed Forces India
; 79(Suppl 1): S196-S201, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38144635
2.
Correlation of renal length with anthropometric and demographic data in healthy children: A prospective cross sectional study.
Med J Armed Forces India
; 79(Suppl 1): S202-S208, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38144613
3.
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
Fetal Pediatr Pathol
; 41(6): 1041-1051, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821546
4.
Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 ( TRPM6 ) Gene.
J Pediatr Genet
; 13(1): 35-42, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38567178
5.
Novel combination of FLNC (c.5707G>A; p. Glu1903Lys) and BAG3 (c.610G>A; p.Gly204Arg) genetic variant expressing restrictive cardiomyopathy phenotype in an adolescent girl.
J Genet
; 1012022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36560844
6.
Partial Trisomy 16q21-q24.3 with Novel Cardiac Manifestation of Left Ventricular Noncompaction Cardiomyopathy: A Case Report.
J Pediatr Genet
; 10(4): 326-330, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34849281
7.
Type B lactic acidosis due to Warburg effect in a child presenting with T cell acute lymphoblastic leukaemia: a milder phenotype.
BMJ Case Rep
; 13(3)2020 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32188616
8.
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant.
Clin Dysmorphol
; 32(1): 32-35, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36503922
9.
Acrorenal Syndrome: Unusual Association of Limb and Renal Anomaly.
Indian J Nephrol
; 32(2): 182-183, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35603114
10.
A Case of Schimke Immunoosseous Dysplasia Caused by Large Deletion of SMARCAL1 Gene.
Indian J Endocrinol Metab
; 25(4): 358-360, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35136747
11.
Hypertrophic Obstructive Cardiomyopathy in an Infant with Neuroblastoma.
Indian J Pediatr
; 88(8): 836, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34021863
12.
Stumped by Potassium: A Rare Case of Familial Pseudohyperkalemia.
Indian Pediatr
; 57(5): 472-473, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32444524
13.
Adrenoleukodystrophy: The Importance of Early MRI Findings and Serial Imaging.
Neurol India
; 67(6): 1559-1561, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857563