Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Am J Med Genet C Semin Med Genet
; 190(1): 102-108, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488810
3.
Appraisal of Critically Ill COVID-19 Patients at a Dedicated COVID Hospital.
J Assoc Physicians India
; 68(9): 14-19, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32798339
4.
Role of physical therapy intervention in acute disseminated encephalomyelitis.
BMJ Case Rep
; 17(4)2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38589237
5.
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Eur J Med Genet
; 67: 104907, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141875
6.
Type 1 collagenopathy presenting with a Russell-Silver phenotype.
Am J Med Genet A
; 155A(6): 1414-8, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21567925
7.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
BMJ
; 375: e066288, 2021 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732400
8.
Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.
Arch Dis Child
; 105(4): 384-389, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481360
9.
Effects of Intraperitoneal Local Anaesthetics Bupivacaine and Ropivacaine versus Placebo on Postoperative Pain after Laparoscopic Cholecystectomy: A Randomised Double Blind Study.
J Clin Diagn Res
; 11(7): UC08-UC12, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28893013
10.
Evaluation of the Efficacy of Bupivacaine (0.5%) alone or with Clonidine (1µg/kg) Versus Control in a Single Level Paravertebral Blockin Patients Undergoing PCNL Procedure.
J Clin Diagn Res
; 10(12): UC13-UC17, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28208979
11.
3p interstitial deletion: novel case report and review.
J Child Neurol
; 27(8): 1062-6, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290856
12.
The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.
Neuromuscul Disord
; 20(6): 403-6, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20471262
13.
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.
Clin Dysmorphol
; 15(2): 111-3, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16531739