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

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

硒蛋白生物合成缺陷导致进行性脑病伴乳酸水平升高

Anttonen, Anna-Kaisa; Hilander, Taru; Linnankivi, Tarja; Isohanni, Pirjo; French, Rachel L; Liu, Yuchen; Simonović, Miljan; Söll, Dieter; Somer, Mirja; Muth-Pawlak, Dorota; Corthals, Garry L; Laari, Anni; Ylikallio, Emil; Lähde, Marja; Valanne, Leena; Lönnqvist, Tuula; Pihko, Helena; Paetau, Anders; Lehesjoki, Anna-Elina; Suomalainen, Anu; Tyynismaa, Henna

Variants in CUL4B are associated with cerebral malformations.

CUL4B基因变异与脑畸形有关

Vulto-van Silfhout Anneke T, Nakagawa Tadashi, Bahi-Buisson Nadia, Haas Stefan A, Hu Hao, Bienek Melanie, Vissers Lisenka E L M, Gilissen Christian, Tzschach Andreas, Busche Andreas, Müsebeck Jörg, Rump Patrick, Mathijssen Inge B, Avela Kristiina, Somer Mirja, Doagu Fatma, Philips Anju K, Rauch Anita, Baumer Alessandra, Voesenek Krysta, Poirier Karine, Vigneron Jacqueline, Amram Daniel, Odent Sylvie, Nawara Magdalena, Obersztyn Ewa, Lenart Jacek, Charzewska Agnieszka, Lebrun Nicolas, Fischer Ute, Nillesen Willy M, Yntema Helger G, Järvelä Irma, Ropers Hans-Hilger, de Vries Bert B A, Brunner Han G, van Bokhoven Hans, Raymond F Lucy, Willemsen Michèl A A P, Chelly Jamel, Xiong Yue, Barkovich A James, Kalscheuer Vera M, Kleefstra Tjitske, de Brouwer Arjan P M

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

芬兰智力障碍家庭的X染色体外显子组测序——发现四个新的突变和两种新的综合征表型

Philips, Anju K; Sirén, Auli; Avela, Kristiina; Somer, Mirja; Peippo, Maarit; Ahvenainen, Minna; Doagu, Fatma; Arvio, Maria; Kääriäinen, Helena; Van Esch, Hilde; Froyen, Guy; Haas, Stefan A; Hu, Hao; Kalscheuer, Vera M; Järvelä, Irma

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer

AXIN2基因突变会导致家族性牙齿缺失,并增加罹患结直肠癌的风险。

Lammi, Laura; Arte, Sirpa; Somer, Mirja; Jarvinen, Heikki; Lahermo, Paivi; Thesleff, Irma; Pirinen, Sinikka; Nieminen, Pekka