Detalhe da pesquisa
1.
Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders.
Mol Hum Reprod
; 27(6)2021 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34009290
2.
Statistical method to compare massive parallel sequencing pipelines.
BMC Bioinformatics
; 18(1): 139, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28249565
3.
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Clin Genet
; 89(2): 198-204, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26138355
4.
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Nature
; 463(7281): 671-5, 2010 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-20130649
5.
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.
Clin Genet
; 87(5): 488-91, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24835530
6.
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.
Clin Genet
; 92(1): 112-114, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28090630
7.
Clinical and molecular characterization of a combined 17p13.3 microdeletion with partial monosomy 21q21.3 in a 26-year-old man.
Cytogenet Genome Res
; 135(2): 102-10, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21876345
8.
Delineation of 15q13.3 microdeletions.
Clin Genet
; 78(2): 149-61, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20236110
9.
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Clin Epigenetics
; 11(1): 156, 2019 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31685013
10.
Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital.
J Gynecol Obstet Hum Reprod
; 46(3): 275-283, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28403926
11.
[Small animal image-guided radiotherapy: A new era for preclinical studies]. / Radiothérapie guidée par l'image pour les petits animaux: une nouvelle ère pour les études précliniques.
Cancer Radiother
; 20(1): 43-53, 2016 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-26856635