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2 research outputs found
Putative founder effect of Arg338* AP4M1 ( SPG50 ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
Author
Abi‐Warde Marie‐Thérèse
Abramowicz Marc
+24 more
Azizimalamiri Reza
Becker Aurélie
Bonnet Céline
Bronner Myriam
Clément Guillemette
de Saint Martin Anne
Ding Can
Duerinckx Sarah
Felici Charlotte
Galehdari Hamid
Jonveaux Philippe
Lambert Laëtitia
Lefort Geneviève
Leheup Bruno
Pirson Isabelle
Renaud Mathilde
Sadeghian Saeid
Schaefer Elise
Seifi Tahereh
Selig Mareike
Shariati Gholamreza
Zamani Mina
Zeighami Jawaher
Zix Christian
Publication venue
Publication date
31/03/2023
Field of study
No full text
info:eu-repo/semantics/inPres
DI-fusion
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Author
Abdel-Hamid Mohamed S
Abdullah Uzma
+84 more
Akbas Sinan
Al Aqeel Aida I
Al Mutairi Fuad
Al Shalan Maha
Al Shamsi Aisha M
Al-Gazali Lihadh
Alabdi Lama
Alavi Shahryar
Ali Zafar
Alkuraya Fowzan Sami
Armstrong-Javors Amy E
Asl Samaneh Noroozi
Azizimalamiri Reza
Babaei Meisam
Baig Shahid Mahmood
Bauer Peter
Beetz Christian
Begemann Anais
Ben-Shachar Shay
Burglen Lydie
Cali Elisa
Chung Wendy K
Dilruba Aslanger Ayça
Efthymiou Stephanie
Ejeskär Katarina
Elhanan Emil
Ferla Matteo
Galehdari Hamid
Ghavideldarestani Maryam
Ghayoor Karimiani Ehsan
Gleeson Joseph J
Hackenberg Annette
Hamid Mohammad
Hickey Scott E
High Frances A
Houlden Henry
Isohanni Pirjo
Kaiyrzhanov Rauan
Kamel Walaa A
Kurian Manju A
Lalani Seema
Lau Tracy
Lupski James R
Maqbool Shazia
Marafi Dana
Marom Daphna
Maroofian Reza
Mencacci Niccolo Emanuele
Meng Linyan
Muhammad Jameel
Murphy David
Palculict Timothy Blake
Rahman Fatima
Rauch Anita
Ravelli Claudia
Rudnik-Schöneborn Sabine
Saadi Nebal Waill
Saadi Saadia Maryam
Saberi Alihossein
Sadeghian Saeid
Salpietro Vincenzo
Schatz Ulrich A
Sedaghat Alireza
Seeger Jürgen
Seifi Tahereh
Severino Mariasavina
Shahrooei Mohmmad
Shariati Gholamreza
Sheraz Khan
Spaull Robert
Steindl Katharina
Tajsharghi Homa
Taylor Jenny C
Toosi Mehran Beiraghi
Tortora Domenico
Van Esch Hilde
Yeşil Gözde
Yousaf Hammad
Zahraei Seyed Mohammadsaleh
Zaki Maha S
Zamani Mina
Zeighami Jawaher
Zifarelli Giovanni
Zschocke Johannes
Publication venue
Publication date
30/07/2023
Field of study
No full text
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