Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

Por Møller, Rikke S., Kübart, Sabine, Hoeltzenbein, Maria, Heye, Babett, Vogel, Ida, Hansen, Christian P., Menzel, Corinna, Ullmann, Reinhard, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M.
Publicado em 2008

Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

Por Kalscheuer, Vera M., Tao, Jiong, Donnelly, Andrew, Hollway, Georgina, Schwinger, Eberhard, Kübart, Sabine, Menzel, Corinna, Hoeltzenbein, Maria, Tommerup, Niels, Eyre, Helen, Harbord, Michael, Haan, Eric, Sutherland, Grant R., Ropers, Hans-Hilger, Gécz, Jozef
Publicado em 2003