日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome

一名患有赫尔斯莫特尔-范德阿综合征的儿童存在20q13.13杂合微缺失,该缺失包含ADNP基因。

Huynh, Minh-Tuan; Boudry-Labis, Elise; Massard, Alfred; Thuillier, Caroline; Delobel, Bruno; Duban-Bedu, Bénédicte; Vincent-Delorme, Catherine

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

阐明复发性 2q13 缺失和重复的精神和行为表型

Wolfe, Kate; McQuillin, Andrew; Alesi, Viola; Boudry Labis, Elise; Cutajar, Peter; Dallapiccola, Bruno; Dentici, Maria Lisa; Dieux-Coeslier, Anne; Duban-Bedu, Benedicte; Duelund Hjortshøj, Tina; Goel, Himanshu; Loddo, Sara; Morrogh, Deborah; Mosca-Boidron, Anne-Laure; Novelli, Antonio; Olivier-Faivre, Laurence; Parker, Jennifer; Parker, Michael J; Patch, Christine; Pelling, Anna L; Smol, Thomas; Tümer, Zeynep; Vanakker, Olivier; van Haeringen, Arie; Vanlerberghe, Clémence; Strydom, Andre; Skuse, David; Bass, Nick

SNP-array lesions in core binding factor acute myeloid leukemia

核心结合因子急性髓系白血病中的SNP芯片病变

Duployez, Nicolas; Boudry-Labis, Elise; Roumier, Christophe; Boissel, Nicolas; Petit, Arnaud; Geffroy, Sandrine; Helevaut, Nathalie; Celli-Lebras, Karine; Terré, Christine; Fenneteau, Odile; Cuccuini, Wendy; Luquet, Isabelle; Lapillonne, Hélène; Lacombe, Catherine; Cornillet, Pascale; Ifrah, Norbert; Dombret, Hervé; Leverger, Guy; Jourdan, Eric; Preudhomme, Claude

Diagnosis of intrachromosomal amplification of chromosome 21 (iAMP21) by molecular cytogenetics in pediatric acute lymphoblastic leukemia

分子细胞遗传学诊断儿童急性淋巴细胞白血病中的21号染色体内扩增(iAMP21)

Duployez, Nicolas; Boudry-Labis, Elise; Decool, Gauthier; Grzych, Guillaume; Grardel, Nathalie; Abou Chahla, Wadih; Preudhomme, Claude; Roche-Lestienne, Catherine