Detalhe da pesquisa
1.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Am J Hum Genet
; 105(6): 1294-1301, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31761294
2.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
3.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Brain
; 143(5): 1447-1461, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282878
4.
Expression of the GBGT1 Gene and the Forssman Antigen in Red Blood Cells in a Palestinian Population.
Transfus Med Hemother
; 46(6): 450-454, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31933576
5.
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.
BMC Genet
; 17(1): 71, 2016 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-27245440
6.
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.
BMC Musculoskelet Disord
; 17: 109, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26932181
7.
LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences.
Biochim Biophys Acta
; 1844(2): 398-405, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24239874
8.
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
Hum Mol Genet
; 22(12): 2411-22, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23446635
9.
Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.
Biochim Biophys Acta
; 1822(4): 493-9, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22198226
10.
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
N Engl J Med
; 362(13): 1203-10, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20357282
11.
Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.
Neuromuscul Disord
; 31(4): 348-358, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33579567
12.
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Brain
; 132(Pt 11): 3165-74, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19720722
13.
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.
Neuromuscul Disord
; 19(2): 147-50, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19138848
14.
Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP.
Brain Commun
; 1(1): fcz011, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954258
15.
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.
Ann Clin Transl Neurol
; 6(11): 2197-2204, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31560180
16.
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.
Neurol Genet
; 4(6): e295, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30584599
17.
Prevalence of antibodies to a new histo-blood system: the FORS system.
Blood Transfus
; 16(2): 178-183, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27893352
18.
Molecular genetic and clinical aspects of mitochondrial disorders in childhood.
Mitochondrion
; 7(4): 241-52, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17376748
19.
POLG1 mutations associated with progressive encephalopathy in childhood.
J Neuropathol Exp Neurol
; 65(8): 758-68, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16896309
20.
A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.
Neuromuscul Disord
; 16(12): 874-7, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17056256