Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Phenotypic characterisation of SMAD4 variant carriers.
J Med Genet
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38575304
3.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529886
4.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
5.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057675
6.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Genet Med
; 24(12): 2475-2486, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197437
7.
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.
Pediatr Dev Pathol
; 25(5): 548-552, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35481434
8.
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Clin Genet
; 99(5): 732-739, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506510
9.
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
Cytogenet Genome Res
; 160(2): 72-79, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32187601
10.
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Int J Neonatal Screen
; 9(1)2023 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36810318
11.
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Eur J Med Genet
; 65(3): 104445, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091117
12.
Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
Eur J Med Genet
; 63(10): 103994, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707268
13.
The psychopharmacology of Wilson disease and other metabolic disorders.
Handb Clin Neurol
; 165: 191-205, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31727212
14.
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.
Mol Genet Metab Rep
; 21: 100509, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31720226