Anzahl der Publikationen: 5
2019
Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute und Koelbel, Heike
(2019):
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
In: Orphanet Journal of Rare Diseases, Bd. 14, 179
2016
2015
Mehraein, Yasmin; Pfob, Martina; Steinlein, Ortrud K.; Aichinger, Eric; Eggert, Marlene; Bubendorff, Valerie; Mannhart, Adelina und Müller, Stefan
(2015):
2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.
In: Cytogenetic and Genome Research, Bd. 146, Nr. 1: S. 33-38
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