Detalhe da pesquisa
1.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med;
26(1): 101007, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37860968
2.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet;
106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32109418
3.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med;
24(5): 1096-1107, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35063350
4.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet;
108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34087165
5.
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Eur J Med Genet;
66(5): 104733, 2023 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36842471
6.
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Eur J Hum Genet;
30(9): 1076-1082, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35729264
7.
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Eur J Hum Genet;
22(2): 289-92, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23674175
8.
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
Eur J Med Genet;
53(4): 208-12, 2010.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20478419