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2019
Moosa, Shahida 
ORCID: 0000-0002-4463-3067, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Janner, Marco, Semler, Oliver, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd and Netzer, Christian
(2019).
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am. J. Hum. Genet., 105 (4).
S. 836 - 844.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2017
Speckmann, Carsten ORCID: 0000-0002-6217-1556, Sahoo, Sushree Sangita, Rizzi, Marta, Hirabayashi, Shinsuke, Karow, Axel, Serwas, Nina Kathrin, Hoemberg, Marc, Damatova, Natalja, Schindler, Detlev, Vannier, Jean-Baptiste, Boulton, Simon J., Pannicke, Ulrich, Goehring, Gudrun, Thomay, Kathrin, Verdu-Amoros, J. J., Hauch, Holger, Woessmann, Wilhelm, Escherich, Gabriele, Laack, Eckart, Rindle, Liliana, Seidl, Maximilian, Rensing-Ehl, Anne, Lausch, Ekkehart, Jandrasits, Christine, Strahm, Brigitte, Schwarz, Klaus, Ehl, Stephan R., Niemeyer, Charlotte, Boztug, Kaan ORCID: 0000-0001-8387-9185 and Wlodarski, Marcin W.
(2017).
Clinical and Molecular Heterogeneity of RTE L1 Deficiency (vol 8, pg 449, 2017).
Front. Immunol., 8.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 1664-3224
Speckmann, Carsten ORCID: 0000-0002-6217-1556, Sahoo, Sushree Sangita, Rizzi, Marta, Hirabayashi, Shinsuke, Karow, Axel, Serwas, Nina Kathrin, Hoemberg, Marc, Damatova, Natalja, Schindler, Detlev, Vannier, Jean-Baptiste, Boulton, Simon J., Pannicke, Ulrich, Goehring, Gudrun, Thomay, Kathrin, Verdu-Amoros, J. J., Hauch, Holger, Woessmann, Wilhelm, Escherich, Gabriele, Laack, Eckart, Rindle, Liliana, Seidl, Maximilian, Rensing-Ehl, Anne, Lausch, Ekkehart, Jandrasits, Christine ORCID: 0000-0003-1357-4401, Strahm, Brigitte, Schwarz, Klaus, Ehl, Stephan R., Niemeyer, Charlotte, Boztug, Kaan ORCID: 0000-0001-8387-9185 and Wlodarski, Marcin W.
(2017).
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Front. Immunol., 8.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 1664-3224
2013
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