Detalhe da pesquisa
1.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
; 147(4): 1436-1456, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37951597
2.
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
J Med Genet
; 61(6): 549-552, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272662
3.
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1151-1160, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33979636
4.
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Am J Hum Genet
; 107(2): 293-310, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707087
5.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
6.
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.
Am J Med Genet A
; 182(4): 730-734, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31913554
7.
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.
J Dtsch Dermatol Ges
; 18(1): 17-25, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31642606
8.
Spektrum der Ichthyosen in einer österreichischen Ichthyosekohorte von 2004-2007.
J Dtsch Dermatol Ges
; 18(1): 17-26, 2020 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-31985158
9.
Response to Hall et al.
Am J Hum Genet
; 107(6): 1188-1189, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33275912
10.
Correction: Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction.
PLoS One
; 17(4): e0267678, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446914
11.
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.
J Inherit Metab Dis
; 33(5): 513-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20532824
12.
Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction.
PLoS One
; 15(2): e0229718, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32108178
13.
Monogenic variants in dystonia: an exome-wide sequencing study.
Lancet Neurol
; 19(11): 908-918, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098801
14.
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.
Biochim Biophys Acta Mol Cell Res
; 1866(3): 518-531, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30366024
15.
Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.
Neurology
; 91(18): e1690-e1694, 2018 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30291184