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

Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014-2016)

马来西亚粘多糖贮积症选择性筛查:一项为期两年的研究(2014-2016 年)

Omar, Affandi; Jalil, Julaina A; Shakrin, Norashareena M; Ngu, Lock H; Yunus, Zabedah M

Demographic, laboratory findings and diagnostic evaluation among high risk patients with mucopolysaccharidosis in Malaysia

马来西亚粘多糖贮积症高危患者的人口统计学特征、实验室检查结果和诊断评估

Omar, Affandi; Jalil, Julaina A; Shakrin, Norashareena M; Ngu, Lock H; Yunus, Zabedah M

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

SERAC1基因突变引起的进行性耳聋-肌张力障碍:一项对67例病例的研究

Maas, Roeltje R; Iwanicka-Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A; Al-Zaidan, Hamad I; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K; Burlina, Alberto; Christodoulou, John; Chung, Wendy K; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B; van Hasselt, Peter M; Hikmat, Omar; Hörster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A; de Brouwer, Arjan P; Wortmann, Saskia B

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

OFD1 在 X 连锁 Joubert 综合征中发生突变,并与 LCA5 编码的 lebercilin 相互作用

Karlien L M Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y Kroes, Stef J F Letteboer, Lock H Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T Gorden, Malika Azhimi, Christel Thauvin-Robinet, Joris A Veltman, Mireille Boink, Tjitske Kleefstra, Frans P M Cremers, Hans van Bokhoven, Arjan

Structures of gold(i) and silver(i) thiolate complexes of medicinal interest: a review and recent results

具有药用价值的金(I)和银(I)硫醇盐配合物的结构:综述及最新结果

Howard-Lock, H E