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1.
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
J Neurogenet
; 31(1-2): 30-36, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28460589
2.
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Am J Hum Genet
; 91(1): 202-8, 2012 Jul 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-22748208
3.
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
Mol Genet Metab
; 115(4): 161-7, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-26026795
4.
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
J Inherit Metab Dis
; 38(5): 905-14, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25868664
5.
Reduction in newborn screening metabolic false-positive results following a new collection protocol.
Genet Med
; 16(6): 477-83, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24177054
6.
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Mol Genet Metab
; 106(1): 55-61, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22424739
7.
A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.
Nucleosides Nucleotides Nucleic Acids
; 36(5): 317-327, 2017 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28102781
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