Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

nork Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde
Argitaratua 2012

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

nork Siekierska, Aleksandra, Isrie, Mala, Liu, Yue, Scheldeman, Chloë, Vanthillo, Niels, Lagae, Lieven, de Witte, Peter A.M., Van Esch, Hilde, Goldfarb, Mitchell, Buyse, Gunnar M.
Argitaratua izan da Neurology (2016)

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

nork Mensah, Martin A., Hestand, Matthew S., Larmuseau, Maarten H. D., Isrie, Mala, Vanderheyden, Nancy, Declercq, Matthias, Souche, Erika L., Van Houdt, Jeroen, Stoeva, Radka, Van Esch, Hilde, Devriendt, Koen, Voet, Thierry, Decorte, Ronny, Robinson, Peter N., Vermeesch, Joris R.
Argitaratua izan da PLoS Genet (2014)

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

nork Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Porta, Doonanco, Kurston, Leonard, Norma, Tinsa, Faten, Moortgat, Stéphanie, Ulucan, Hakan, Koparir, Erkan, Karaca, Ender, Katsanis, Nicholas, Marton, Valeria, Vermeesch, Joris Robert, Davis, Erica E., Cowan, Nicholas J., Keays, David Anthony, Van Esch, Hilde
Argitaratua izan da Am J Hum Genet (2015)

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

nork Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria
Argitaratua izan da J Med Genet (2016)