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

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

PPP2R5C基因的致病性新生变异会导致Houge-Janssens综合征谱系内的神经发育障碍。

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

A Retrospective observational cohort study of the effect of antenatal influenza vaccination on birth outcomes in Cape Town, South Africa, 2015-2016

一项回顾性观察队列研究,探讨2015-2016年南非开普敦产前流感疫苗接种对出生结局的影响

McMorrow, Meredith L; Rossi, Liza; Meiring, Susan; Bishop, Katherine; Itzikowitz, Raphaela; Isaacs, Washiefa; Stellenboom, Faakhiera; Walaza, Sibongile; Hellferscee, Orienka; Treurnicht, Florette K; Zar, Heather J; Tempia, Stefano; Cohen, Cheryl

Diagnosis and management of community-acquired pneumonia in children: South African Thoracic Society guidelines

儿童社区获得性肺炎的诊断和治疗:南非胸科协会指南

Zar, H J; Moore, D P; Andronikou, S; Argent, A C; Avenant, T; Cohen, C; Green, R J; Itzikowitz, G; Jeena, P; Masekela, R; Nicol, M P; Pillay, A; Reubenson, G; Madhi, S A