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

Genetic Landscape of Robin Sequence: A Systematic Review

罗宾序列的遗传图谱:系统性综述

van de Velde, Shirley; Mink van der Molen, Aebele B; Lachmeijer, Augusta M A; de Leijer, Daan; Smits, Jeroen J; Massink, Maarten P G; Versnel, Sarah L; van den Boogaard, Marie-José H; Paes, Emma C

A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung

ZCCHC8基因的新变异:多种临床表型及在肺部的表达

Groen, Karlijn; van der Vis, Joanne J; van Batenburg, Aernoud A; Kazemier, Karin M; de Bruijn, Marjolein J W; Stadhouders, Ralph; Arp, Pascal; Verkerk, Annemieke J M H; Schoemaker, Angela E; de Bie, Charlotte I; Massink, Maarten P G; van Beek, Frouke T; Grutters, Jan C; Vergouw, Leonie J M; van Moorsel, Coline H M

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1

ACMG/AMP遗传性出血性毛细血管扩张症基因变异注释指南规范-ENG和ACVRL1

DeMille, Desiree; McDonald, Jamie; Bernabeu, Carmelo; Racher, Hilary; Olivieri, Carla; Cantarini, Claudia; Sbalchiero, Anna; Thompson, Bryony A; Jovine, Luca; Shovlin, Claire L; Dupuis-Girod, Sophie; Lesca, Gaetan; Tusseau, Maud; Ganguly, Arupa; Kasthuri, Raj S; Jessen, Jaime; Massink, Maarten P G; Ichikawa, Shoji; Bayrak-Toydemir, Pinar

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

NAE1 中的双等位基因变异会导致智力障碍、坐骨耻骨发育不全、应激介导的淋巴细胞减少和神经退行性疾病

Irena J J Muffels, Imre F Schene, Holger Rehmann, Maarten P G Massink, Maria M van der Wal, Corinna Bauder, Martha Labeur, Natalia G Armando, Maarten H Lequin, Michiel L Houben, Jaques C Giltay, Saskia Haitjema, Albert Huisman, Fleur Vansenne, Judith Bluvstein, John Pappas, Lala V Shailee, Yuri A Za

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

荷兰对唇裂、牙槽裂和/或腭裂(非综合征型)患者进行诊断性基因组检测

Wurfbain, Lisca Florence; Cox, Inge Lucia; van Dooren, Maria Francisca; Lachmeijer, Augusta Maria Antonia; Verhoeven, Virginie Johanna Maria; van Hagen, Johanna Maria; Heijligers, Malou; Klein Wassink-Ruiter, Jolien Sietske; Koene, Saskia; Maas, Saskia Mariska; Veenstra-Knol, Hermine Elisabeth; Ploos van Amstel, Johannes Kristian; Massink, Maarten Pieter Gerrit; Mink van der Molen, Aebele Barber; van den Boogaard, Marie-José Henriette

Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome

融合微肽 Myomixer 活性受损导致类似 Carey-Fineman-Ziter 综合征的肌病

Andres Ramirez-Martinez, Yichi Zhang, Marie-Jose van den Boogaard, John R McAnally, Cristina Rodriguez-Caycedo, Andreas C Chai, Francesco Chemello, Maarten Pg Massink, Inge Cuppen, Martin G Elferink, Robert Jj van Es, Nard G Janssen, Linda Pam Walraven-van Oijen, Ning Liu, Rhonda Bassel-Duby, Richar

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis

端粒功能障碍与特发性肺纤维化患者的 POT1 有关

Joseph Kelich, Tomas Aramburu, Joanne J van der Vis, Louise Showe, Andrew Kossenkov, Jasper van der Smagt, Maarten Massink, Angela Schoemaker, Eric Hennekam, Marcel Veltkamp, Coline H M van Moorsel, Emmanuel Skordalakes

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

NAA80双等位基因错义变异会导致高频听力损失、肌肉无力和发育迟缓

Irena J J Muffels ,Elsa Wiame ,Sabine A Fuchs ,Maarten P G Massink ,Holger Rehmann ,Jiska L I Musch ,Gijs Van Haaften ,Didier Vertommen ,Emile van Schaftingen ,Peter M van Hasselt

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity

PPARγ的天然螺旋9突变体对其转录活性有不同的影响

Marjoleine F Broekema, Maarten P G Massink, Cinzia Donato, Joep de Ligt, Joerg Schaarschmidt, Anouska Borgman, Marieke G Schooneman, Diana Melchers, Martin N Gerding, René Houtman, Alexandre M J J Bonvin, Amit R Majithia, Houshang Monajemi, Gijs W van Haaften, Maarten R Soeters, Eric Kalkhoven

A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy

一名患有部分脂肪营养不良症的患者体内存在单个复杂的Agpat2等位基因

Broekema, Marjoleine F; Massink, Maarten P G; De Ligt, Joep; Stigter, Edwin C A; Monajemi, Houshang; De Ridder, Jeroen; Burgering, Boudewijn M T; van Haaften, Gijs W; Kalkhoven, Eric