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Journal Article
Cunha, Dulce Lima, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmueller, Janine, Nuernberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias 
ORCID: 0000-0002-4064-1334, Alabdulkareem, Adnan S., Alnutaifi, Kholood Abdulaziz and Hennies, Hans Christian
(2019).
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Mol. Genet. Genom. Med., 7 (3).
HOBOKEN:
WILEY.
ISSN 2324-9269
Gallon, Richard ORCID: 0000-0002-5395-0099, Muehlegger, Barbara, Wenzel, Soeren-Sebastian, Sheth, Harsh, Hayes, Christine, Aretz, Stefan ORCID: 0000-0002-5228-1890, Dahan, Karin, Foulkes, William, Kratz, Christian P., Ripperger, Tim, Azizi, Amedeo A., Feldman, Hagit Baris, Chong, Anne-Laure, Demirsoy, Ugur, Florkin, Benoit, Imschweiler, Thomas, Januszkiewicz-Lewandowska, Danuta ORCID: 0000-0003-2332-2750, Lobitz, Stephan ORCID: 0000-0001-5398-0610, Nathrath, Michaela, Pander, Hans-Juergen, Perez-Alonso, Vanesa, Perne, Claudia, Ragab, Iman, Rosenbaum, Thorsten, Rueda, Daniel ORCID: 0000-0002-5377-8890, Seidel, Markus G. ORCID: 0000-0003-0981-8661, Suerink, Manon, Taeubner, Julia, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro and Wimmer, Katharina
(2019).
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum. Mutat., 40 (5).
S. 649 - 656.
HOBOKEN:
WILEY.
ISSN 1098-1004
Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann ORCID: 0000-0003-3285-4281, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Bamshad, Michael, Bjorck, Erik ORCID: 0000-0002-1210-2245, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus ORCID: 0000-0002-3858-8474, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Romani, Nikolaus ORCID: 0000-0003-1614-9128, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Silver, Rachel, Taylan, Fulya ORCID: 0000-0002-2907-0235, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H. and Zschocke, Johannes ORCID: 0000-0002-0046-8274
(2016).
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Am. J. Hum. Genet., 99 (5).
S. 1005 - 1015.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605