Detalhe da pesquisa
1.
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.
Neurogenetics
; 23(4): 241-255, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35788923
2.
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
Hum Genet
; 141(7): 1269-1278, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34495415
3.
First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
Am J Med Genet A
; 188(11): 3343-3349, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35972031
4.
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Hum Mutat
; 42(12): 1576-1583, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34570399
5.
Application of Atlas of Cancer Signalling Network in preclinical studies.
Brief Bioinform
; 20(2): 701-716, 2019 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726961
6.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234304
7.
HLA-DPB1 and HLA class I confer risk of and protection from narcolepsy.
Am J Hum Genet
; 96(1): 136-46, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574827
8.
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.
Genome Med
; 15(1): 39, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37221613
9.
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
J Neurol
; 268(5): 1927-1937, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417001
10.
Comprehensive Map of the Regulated Cell Death Signaling Network: A Powerful Analytical Tool for Studying Diseases.
Cancers (Basel)
; 12(4)2020 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32316560
11.
[Narcolepsy: From the discovery of a wake promoting peptide to autoimmune T cell biology and molecular mimicry with flu epitopes]. / Narcolepsie : une maladie auto-immune affectant un peptide de l'éveil liée à un mimétisme moléculaire avec des épitopes du virus de la grippe.
Biol Aujourdhui
; 213(3-4): 87-108, 2019.
Artigo
em Francês
| MEDLINE | ID: mdl-31829930
12.
Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family.
Mov Disord Clin Pract
; 10(5): 845-847, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205239
13.
Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.
Parkinsonism Relat Disord
; 109: 105310, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36803911
14.
Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.
J Neurol
; 269(12): 6664-6666, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864215