Detalhe da pesquisa
1.
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
Clin Genet
; 103(1): 97-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071576
2.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232796
3.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Am J Hum Genet
; 99(6): 1229-1244, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27817865
4.
Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome.
Clin Genet
; 104(2): 269-271, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36932902
5.
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Mol Genet Metab
; 116(4): 289-97, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26547561
6.
A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
Acta Neurol Belg
; 119(4): 623-625, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298423