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Forschungsdatenbank PMU-SQQUID

HÄCKL BIRGIT
Universitätsinstitut für Rehabilitation, Transition und Palliation von neurologisch kranken Kindern

Publikationen

1 Publikationen

2017

Beiträge in Fachzeitschriften

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne, C; Nava, C; Keren, B; Heide, S; Rastetter, A; Passemard, S; Chantot-Bastaraud, S; Moutard, ML; Agrawal, PB; VanNoy, G; Stoler, JM; Amor, DJ; Billette de Villemeur, T; Doummar, D; Alby, C; Cormier-Daire, V; Garel, C; Marzin, P; Scheidecker, S; de Saint-Martin, A; Hirsch, E; Korff, C; Bottani, A; Faivre, L; Verloes, A; Orzechowski, C; Burglen, L; Leheup, B; Roume, J; Andrieux, J; Sheth, F; Datar, C; Parker, MJ; Pasquier, L; Odent, S; Naudion, S; Delrue, MA; Le Caignec, C; Vincent, M; Isidor, B; Renaldo, F; Stewart, F; Toutain, A; Koehler, U; Häckl, B; von Stülpnagel, C; Kluger, G; Møller, RS; Pal, D; Jonson, T; Soller, M; Verbeek, NE; van Haelst, MM; de Kovel, C; Koeleman, B; Monroe, G; van Haaften, G; Attié-Bitach, T; Boutaud, L; Héron, D; Mignot, C;
Hum Genet. 2017; 136(4): 463-479.
Originalarbeiten (Zeitschrift)