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

The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities

EHHADH基因中反复出现的p.Glu3Lys变异是导致范可尼综合征的原因,该综合征伴有早期肝功能障碍和线粒体异常。

Rollier, P; Cospain, A; Barth, M; Milon, V; Gueguen, N; Homedan, C; Desquiret, V; Bris, C; Colin, E; Damaj, L; Ryckewaert, A; Reynier, P; Odent, S; Amati-Bonneau, P; Procaccio, V; Bonneau, D; Ziegler, A

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

CNTN6基因突变是自闭症谱系障碍患者听觉感觉异常的风险因素。

Mercati, O; Huguet, G; Danckaert, A; André-Leroux, G; Maruani, A; Bellinzoni, M; Rolland, T; Gouder, L; Mathieu, A; Buratti, J; Amsellem, F; Benabou, M; Van-Gils, J; Beggiato, A; Konyukh, M; Bourgeois, J-P; Gazzellone, M J; Yuen, R K C; Walker, S; Delépine, M; Boland, A; Régnault, B; Francois, M; Van Den Abbeele, T; Mosca-Boidron, A L; Faivre, L; Shimoda, Y; Watanabe, K; Bonneau, D; Rastam, M; Leboyer, M; Scherer, S W; Gillberg, C; Delorme, R; Cloëz-Tayarani, I; Bourgeron, T

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore

新加坡常染色体显性遗传性视神经萎缩症的多民族参与情况

Loo, J L; Singhal, S; Rukmini, A V; Tow, S; Amati-Bonneau, P; Procaccio, V; Bonneau, D; Gooley, J J; Reynier, P; Ferré, M; Milea, D

In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History

在无家族史的情况下,通过宫内诊断确诊尼曼-匹克病C型

Colin, E; Barth, M; Boussion, F; Latour, P; Piguet-Lacroix, G; Guichet, A; Ziegler, A; Triau, S; Loisel, D; Sentilhes, L; Bonneau, D

Qubit entanglement between ring-resonator photon-pair sources on a silicon chip

硅芯片上环形谐振器光子对源之间的量子比特纠缠

Silverstone, J W; Santagati, R; Bonneau, D; Strain, M J; Sorel, M; O'Brien, J L; Thompson, M G

Dental abnormalities in Schimke immuno-osseous dysplasia.

Schimke 免疫骨发育不良的牙齿异常

Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai K A, Fenkçi M S, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis D B, Massella L, McLeod D R, Milford D V, Nobili F, Olney A H, Semerci C N, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel C F

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency

动力学分析指导一种新型中度芳香酸脱羧酶缺乏症的治疗决策。

Barth, M; Serre, V; Hubert, L; Chaabouni, Y; Bahi-Buisson, N; Cadoudal, M; Rabier, D; Tich, S Nguyen The; Ribeiro, M; Ricquier, D; Munnich, A; Bonneau, D; de Lonlay, P; Christa, L

Prognostic molecular markers with no impact on decision-making: the paradox of gliomas based on a prospective study

预后分子标志物对决策无影响:基于前瞻性研究的胶质瘤悖论

Wager, M; Menei, P; Guilhot, J; Levillain, P; Michalak, S; Bataille, B; Blanc, J-L; Lapierre, F; Rigoard, P; Milin, S; Duthe, F; Bonneau, D; Larsen, C-J; Karayan-Tapon, L

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

OPA3基因突变是导致常染色体显性遗传性视神经萎缩和白内障的原因。

Reynier, P; Amati-Bonneau, P; Verny, C; Olichon, A; Simard, G; Guichet, A; Bonnemains, C; Malecaze, F; Malinge, M C; Pelletier, J B; Calvas, P; Dollfus, H; Belenguer, P; Malthièry, Y; Lenaers, G; Bonneau, D

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

LEOPARD综合征患者的PTPN11基因突变:一项法国多中心研究

Keren, B; Hadchouel, A; Saba, S; Sznajer, Y; Bonneau, D; Leheup, B; Boute, O; Gaillard, D; Lacombe, D; Layet, V; Marlin, S; Mortier, G; Toutain, A; Beylot, C; Baumann, C; Verloes, A; Cavé, H