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1.
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.
J Inherit Metab Dis
; 39(2): 305-8, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26497564
2.
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.
JIMD Rep
; 42: 31-36, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29159460
3.
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Cold Spring Harb Mol Case Stud
; 3(6)2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28696212
4.
A Comparison of Cognitive Function in Former Rugby Union Players Compared with Former Non-Contact-Sport Players and the Impact of Concussion History.
Sports Med
; 47(6): 1209-1220, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-27558141
5.
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Case Rep Genet
; 2015: 454526, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26587300
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