 | Up a level |
2022
Wong, Keit Men 
ORCID: 0000-0002-5449-6318, Jepsen, Wayne M., Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Salpietro, Vincenzo, Sanchez-Castillo, Meredith, Yip, Janice, Kriouile, Yamna, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Altmuller, Janine ORCID: 0000-0003-4372-1521, Thiele, Holger, Nurnberg, Peter, Toosi, Mehran Beiraghi, Akhondian, Javad, Karimiani, Ehsan Ghayoor, Hummel-Abmeier, Hannah, Huppke, Brenda, Houlden, Henry, Gartner, Jutta, Maroofian, Reza and Huppke, Peter
(2022).
Mutations in TAF8 cause a neurodegenerative disorder.
Brain, 145 (9).
S. 3022 - 3035.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
2021
Iqbal, Maria, Maroofian, Reza, Cavdarli, Busranur, Riccardi, Florence ORCID: 0000-0002-7223-2172, Field, Michael, Banka, Siddharth ORCID: 0000-0002-8527-2210, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Makhdoom, Ehtisham Ul Haq, Ali, Zafar ORCID: 0000-0002-2389-3337, de Almeida, Tobias Scherf, Molinari, Florence ORCID: 0000-0001-5111-7215, Mignon-Ravix, Cecile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara ORCID: 0000-0002-6719-3447, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz ORCID: 0000-0003-3207-4074, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit ORCID: 0000-0001-9385-4168, Altmueller, Janine, Motameny, Susanne, Hoehne, Wolfgang, Houlden, Henry, Nuernberg, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Villard, Laurent ORCID: 0000-0001-6657-5008, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 and Yigit, Gokhan ORCID: 0000-0003-2777-0198
(2021).
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet. Med., 23 (11).
S. 2138 - 2150.
LONDON:
SPRINGERNATURE.
ISSN 1530-0366