Detalhe da pesquisa
1.
First-in-class MKK4 inhibitors enhance liver regeneration and prevent liver failure.
Cell
; 187(7): 1666-1684.e26, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38490194
2.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
3.
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
Am J Hum Genet
; 110(7): 1110-1122, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369202
4.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
J Allergy Clin Immunol
; 153(1): 297-308.e12, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979702
5.
Treatment of AICA ribosiduria by suppression of de novo purine synthesis.
Mol Genet Metab
; 141(3): 108124, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244287
6.
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Brain
; 146(8): 3162-3171, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043503
7.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
8.
Ex vivo proton spectroscopy (1 H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses.
NMR Biomed
; 36(4): e4853, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36264537
9.
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Am J Med Genet A
; 191(2): 469-478, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426740
10.
A Highly Specific Assay for the Detection of SARS-CoV-2-Reactive CD4+ and CD8+ T Cells in COVID-19 Patients.
J Immunol
; 206(3): 580-587, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33298615
11.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851598
12.
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.
Ear Hear
; 44(6): 1464-1484, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37438890
13.
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Int J Mol Sci
; 24(3)2023 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36769033
14.
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Hum Mutat
; 43(10): 1454-1471, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790048
15.
Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation.
Glycobiology
; 32(5): 380-390, 2022 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137040
16.
Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.
Clin Genet
; 101(4): 442-447, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34967012
17.
Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.
Mov Disord
; 37(2): 401-404, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34647648
18.
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Mov Disord
; 37(8): 1707-1718, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699229
19.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Mov Disord
; 37(1): 137-147, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34596301
20.
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Ear Hear
; 43(3): 1049-1066, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34753855