Detalhe da pesquisa
1.
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Brain
; 145(9): 3095-3107, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718349
2.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Genome Res
; 29(7): 1057-1066, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160375
3.
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Brain
; 144(12): 3597-3610, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415310
4.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
5.
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain
; 140(11): 2838-2850, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29088354
6.
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Brain
; 140(3): 547-554, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28052917
7.
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.
Am J Med Genet A
; 170A(4): 1017-22, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26773965
8.
Further defining the phenotypic spectrum of B4GALT7 mutations.
Am J Med Genet A
; 170(6): 1556-63, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940150
9.
Delineating the expanding phenotype associated with SCAPER gene mutation.
Am J Med Genet A
; 179(8): 1665-1671, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192531
10.
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Parkinsonism Relat Disord
; 82: 84-86, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33260061
11.
MNS1 variant associated with situs inversus and male infertility.
Eur J Hum Genet
; 28(1): 50-55, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534215
12.
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
Neurol Genet
; 4(2): e222, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29582019