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Journal Article
Becker, Lena-Luise 
ORCID: 0000-0003-4622-8695, Dafsari, Hormos Salimi, Schallner, Jens, Abdin, Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas ORCID: 0000-0002-0119-5896, Bok, Levinus, Rodan, Lance, Krapels, Ingrid, Spranger, Stephanie, Weschke, Bernhard, Johnson, Katherine, Straub, Volker, Kaindl, Angela M., Di Donato, Nataliya ORCID: 0000-0001-9439-4677, von der Hagen, Maja and Cirak, Sebahattin
(2020).
The clinical-phenotype continuum inDYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
J. Hum. Genet., 65 (11).
S. 1003 - 1018.
LONDON:
SPRINGERNATURE.
ISSN 1435-232X
Grosch, Melanie, Gruener, Barbara, Spranger, Stephanie, Stuetz, Adrian M., Rausch, Tobias ORCID: 0000-0001-5773-5620, Korbel, Jan O., Seelow, Dominik ORCID: 0000-0002-9746-4412, Nuernberg, Peter, Sticht, Heinrich ORCID: 0000-0001-5644-045X, Lausch, Ekkehart, Zabel, Bernhard, Winterpacht, Andreas and Tagariello, Andreas
(2013).
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
Matrix Biol., 32 (7-8).
S. 387 - 393.
AMSTERDAM:
ELSEVIER SCIENCE BV.
ISSN 1569-1802
Horn, Denise, Kapeller, Johannes, Rivera-Brugues, Nria, Moog, Ute, Lorenz-Depiereux, Bettina, Eck, Sebastian, Hempel, Maja, Wagenstaller, Janine, Gawthrope, Alex, Monaco, Anthony P., Bonin, Michael, Riess, Olaf, Wohlleber, Eva, Illig, Thomas, Bezzina, Connie R., Franke, Andre ORCID: 0000-0003-1530-5811, Spranger, Stephanie, Villavicencio-Lorini, Pablo, Seifert, Wenke, Rosenfeld, Jochen, Klopocki, Eva ORCID: 0000-0003-1438-2081, Rappold, Gudrun A. and Strom, Tim M.
(2010).
Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits.
Hum. Mutat., 31 (11).
S. E1851 - 10.
MALDEN:
WILEY-BLACKWELL.
ISSN 1059-7794