Items where Author is "Gillessen-Kaesbach, Gabriele"

Article

Busche, Andreas and Hehr, Ute and Sieg, Peter and Gillessen-Kaesbach, Gabriele (2016) Van der Woude and Popliteal Pterygium Syndromes: Broad Intrafamilial Variability in a Three Generation Family with Mutation in IRF6. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 170 (9). pp. 2404-2407. ISSN 1552-4825, 1552-4833

Hehr, Andreas and Frister, Helmut and Fondel, Sabine and Krauss, Susann and Zuehlke, Christine and Hellenbroich, Yorck and Hehr, Ute and Gillessen-Kaesbach, Gabriele (2014) Preimplantation genetic diagnosis. MEDIZINISCHE GENETIK, 26 (4). pp. 417-426. ISSN 1863-5490

Lines, Matthew A. and Huang, Lijia and Schwartzentruber, Jeremy and Douglas, Stuart L. and Lynch, Danielle C. and Beaulieu, Chandree and Guion-Almeida, Maria Leine and Zechi-Ceide, Roseli Maria and Gener, Blanca and Gillessen-Kaesbach, Gabriele and Nava, Caroline and Baujat, Genevieve and Horn, Denise and Kini, Usha and Caliebe, Almuth and Alanay, Yasemin and Utine, Gulen Eda and Lev, Dorit and Kohlhase, Jurgen and Grix, Arthur W. and Lohmann, Dietmar R. and Hehr, Ute and Boehm, Detlef and Majewski, Jacek and Bulman, Dennis E. and Wieczorek, Dagmar and Boycott, Kym M. (2012) Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly. AMERICAN JOURNAL OF HUMAN GENETICS, 90 (2). pp. 369-377. ISSN 0002-9297, 1537-6605

Edener, Ulf and Woellner, Janine and Hehr, Ute and Kohl, Zacharias and Schilling, Stefan and Kreuz, Friedmar and Bauer, Peter and Bernard, Veronica and Gillessen-Kaesbach, Gabriele and Zuehlke, Christine (2010) Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. EUROPEAN JOURNAL OF HUMAN GENETICS, 18 (8). pp. 965-968. ISSN 1018-4813, 1476-5438

Wieczorek, Dagmar and Gener, Blanca and Martinez Gonzalez, Ma Jesus and Seland, Saskia and Fischer, Sven and Hehr, Ute and Kuechler, Alma and Hoefsloot, Lies H. and de Leeuw, Nicole and Gillessen-Kaesbach, Gabriele and Lohmann, Dietmar R. (2009) Microcephaly, Microtia, Preauricular Tags, Choanal Atresia and Developmental Delay in Three Unrelated Patients: A Mandibulofacial Dysostosis Distinct From Treacher Collins Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A (5). pp. 837-843. ISSN 1552-4825

Wieczorek, Dagmar and Shaw-Smith, Charles and Kohlhase, Juergen and Schmitt, Wolfgang and Buiting, Karin and Coffey, Alison and Howard, Eleanor and Hehr, Ute and Gillessen-Kaesbach, Gabriele (2007) Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation - New MCA/MR syndrome in two affected sibs and a mildly affected mother? AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A (11). pp. 1135-1142. ISSN 1552-4825