B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycan...

Por Maroofian, Reza, Riemersma, Moniek, Jae, Lucas T., Zhianabed, Narges, Willemsen, Marjolein H., Wissink-Lindhout, Willemijn M., Willemsen, Michèl A., de Brouwer, Arjan P. M., Mehrjardi, Mohammad Yahya Vahidi, Ashrafi, Mahmoud Reza, Kusters, Benno, Kleefstra, Tjitske, Jamshidi, Yalda, Nasseri, Mojila, Pfundt, Rolph, Brummelkamp, Thijn R., Abbaszadegan, Mohammad Reza, Lefeber, Dirk J., van Bokhoven, Hans
Publicado no Genome Med (2017)

Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

Por Iqbal, Zafar, Willemsen, Marjolein H., Papon, Marie-Amélie, Musante, Luciana, Benevento, Marco, Hu, Hao, Venselaar, Hanka, Wissink-Lindhout, Willemijn M., Vulto-van Silfhout, Anneke T., Vissers, Lisenka E.L.M., de Brouwer, Arjan P.M., Marouillat, Sylviane, Wienker, Thomas F., Ropers, Hans Hilger, Kahrizi, Kimia, Nadif Kasri, Nael, Najmabadi, Hossein, Laumonnier, Frédéric, Kleefstra, Tjitske, van Bokhoven, Hans
Publicado no Am J Hum Genet (2015)