Detalhe da pesquisa
1.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055214
2.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456468
3.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
4.
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klin Padiatr
; 233(5): 226-230, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33831955
5.
Diagnostic evaluation of heel prick newborn screening of thyroid stimulating hormone on dissociation-enhanced lanthanide fluorescence immunoassay with the establishment of reference value in Pakistani neonates.
J Pak Med Assoc
; 71(1(B)): 191-194, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35157647
6.
Correction: Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klin Padiatr
; 2021 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33971673
7.
Safety and efficacy of laser lithotripsy for complicated biliary stones using direct choledochoscopy.
Dig Dis Sci
; 58(1): 253-6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903184
8.
Panton-Valentine leukocidin Staphylococcus causing fatal necrotising pneumonia in a young boy.
BMJ Case Rep
; 20132013 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23505079
9.
Endoscopic retrograde cholangiopancreatography complications in the era of cholangioscopy: is there an increased risk?
Dig Liver Dis
; 44(9): 754-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22727634
10.
Images in paediatrics: subcutaneous fat necrosis causing radial nerve palsy.
BMJ Case Rep
; 20122012 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22665708
11.
The use of endoscopic clipping devices in the treatment of iatrogenic duodenal perforation.
Gastroenterol Hepatol (N Y)
; 6(10): 660-1, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21103446