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

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract

瑞士双侧先天性白内障患者队列的基因分析

Rechsteiner, Delia; Issler, Lydia; Koller, Samuel; Lang, Elena; Bähr, Luzy; Feil, Silke; Rüegger, Christoph M; Kottke, Raimund; Toelle, Sandra P; Zweifel, Noëmi; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Suter, Aude-Annick; Gogoll, Laura; Haas, Cordula; Berger, Wolfgang; Gerth-Kahlert, Christina

Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature

确认奥格登综合征是一种由复发性NAA10变异引起的X连锁隐性致死性疾病,并回顾相关文献

Gogoll, Laura; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Baumer, Alessandra; Gerth-Kahlert, Christina; Tutschek, Boris; Rauch, Anita

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

阐明原发性和继发性小头畸形的表型谱和遗传图谱

Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Passemard, Sandrine; Drunat, Séverine; Verloes, Alain; Horn, Anselm H C; Sticht, Heinrich; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

隐性遗传在早发性癫痫性脑病中的作用:一项结合全外显子组测序和拷贝数分析的研究

Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; Iff, Tobias; Schmitt-Mechelke, Thomas; Otten, Karoline; Hackenberg, Annette; Addor, Marie-Claude; Klein, Andrea; Azzarello-Burri, Silvia; Sticht, Heinrich; Joset, Pascal; Plecko, Barbara; Rauch, Anita

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.

对 Weill-Marchesani 综合征患者 ADAMTS10 基因中的纯合错义突变进行鉴定和分子表征

Steinkellner Hannes, Etzler Julia, Gogoll Laura, Neesen Jürgen, Stifter Eva, Brandau Oliver, Laccone Franco