Kristof Van Schil onbezoldigd medewerker

Publicaties Kristof Van Schil

TBK1-associated motor neuron disease with concomitant vacuolar myopathy : a case resembling a multisystem proteinopathy

Bron
Neuromuscular disorders - ISSN 0960-8966-53 (2025) p. 1-4
Auteur(s)

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

Bron
European journal of human genetics - ISSN 1018-4813- (2025) p.
Auteur(s)
    Mathis Hildonen, Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Chadi Al Alam, David J. Amor, Tahsin Stefan Barakat, Valerie Benoit, Ohad Shmuel Birk, Bert Callewaert, Ana Cazurro-Gutierrez, Matthias De Wachter, Martine Doco-Fenzy, Paulino Gomez-Puertas, Trine Bjorg Hammer, Rami Abou Jamra, Rauan Kaiyrzhanov, Shinichi Kameyama, Boris Keren, Christina Kresge, Ilona Krey, Damien Lederer, Inigo Marcos-Alcalde, Reza Maroofian, Naomichi Matsumoto, Takeshi Mizuguchi, Lip-Hen Moey, Angela Morgan, Francina Munell, Konrad Platzer, Beth A. Pletcher, David Ros-Pardo, Lynne Rumping, Katalin Szakszon, Kristof Van Schil, Edgard Verdura, Julie Vogt, Evangeline Wassmer, Mina Zamani, Zeynep Tumer, Marco Tartaglia

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Bron
Npj genomic medicine - ISSN 2056-7944-10:1 (2025) p. 1-9
Auteur(s)
    Lieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Julie De Zaeytijd, Marieke De Bruyne, Quinten Mahieu, Ebrahim Al-Hajj, Marta Del Pozo-Valero, Toon Rosseel, Mattias Van Heetvelde, Reza Maroofian, Fatemeh Suri, Miriam Bauwens, Elfride De Baere

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

Bron
Journal of medical genetics - ISSN 0022-2593-61:4 (2024) p. 363-368
Auteur(s)