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

Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

线粒体 NCLX 的异常活动与突触传递受损有关,并与智力障碍有关

Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya Fleidervish, Fabiana Perocchi, Daniel Gitler #, Israel Sekler #

Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

作者更正:线粒体NCLX的异常活性与突触传递受损有关,并与智力低下相关。

Stavsky, Alexandra; Stoler, Ohad; Kostic, Marko; Katoshevsky, Tomer; Assali, Essam A; Savic, Ivana; Amitai, Yael; Prokisch, Holger; Leiz, Steffen; Daumer-Haas, Cornelia; Fleidervish, Ilya; Perocchi, Fabiana; Gitler, Daniel; Sekler, Israel

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

努南综合征、科斯特洛综合征和心面皮肤综合征患儿的癌症谱及发病率

Kratz, C P; Franke, L; Peters, H; Kohlschmidt, N; Kazmierczak, B; Finckh, U; Bier, A; Eichhorn, B; Blank, C; Kraus, C; Kohlhase, J; Pauli, S; Wildhardt, G; Kutsche, K; Auber, B; Christmann, A; Bachmann, N; Mitter, D; Cremer, F W; Mayer, K; Daumer-Haas, C; Nevinny-Stickel-Hinzpeter, C; Oeffner, F; Schlüter, G; Gencik, M; Überlacker, B; Lissewski, C; Schanze, I; Greene, M H; Spix, C; Zenker, M

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

PGAP3基因突变会损害GPI锚定蛋白的成熟,导致一种伴有智力低下的高磷酸酶症亚型。

Howard, Malcolm F; Murakami, Yoshiko; Pagnamenta, Alistair T; Daumer-Haas, Cornelia; Fischer, Björn; Hecht, Jochen; Keays, David A; Knight, Samantha J L; Kölsch, Uwe; Krüger, Ulrike; Leiz, Steffen; Maeda, Yusuke; Mitchell, Daphne; Mundlos, Stefan; Phillips, John A 3rd; Robinson, Peter N; Kini, Usha; Taylor, Jenny C; Horn, Denise; Kinoshita, Taroh; Krawitz, Peter M

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

SIX3 和 SHH 基因的杂合突变与裂脑畸形相关,并进一步扩展了全前脑畸形的临床谱。

Hehr, Ute; Pineda-Alvarez, Daniel E; Uyanik, Goekhan; Hu, Ping; Zhou, Nan; Hehr, Andreas; Schell-Apacik, Chayim; Altus, Carola; Daumer-Haas, Cornelia; Meiner, Annechristin; Steuernagel, Peter; Roessler, Erich; Winkler, Juergen; Muenke, Maximilian

Multiplex-FISH for pre- and postnatal diagnostic applications

用于产前和产后诊断的多重FISH技术

Uhrig, S; Schuffenhauer, S; Fauth, C; Wirtz, A; Daumer-Haas, C; Apacik, C; Cohen, M; Müller-Navia, J; Cremer, T; Murken, J; Speicher, M R