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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
Eckl, Katja M., Gruber, Robert, Brennan, Louise, Marriott, Andrew, Plank, Roswitha, Moosbrugger-Martinz, Verena, Blunder, Stefan, Schossig, Anna, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Zschocke, Johannes, Hennies, Hans Christian and Schmuth, Matthias (2021). Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V. Front. Genet., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021
Gruber, Robert, Boernchen, Christian, Rose, Katharina, Daubmann, Anne, Volksdorf, Thomas, Madykowski, Ewa, Vidal-y-Sy, Sabine, Peters, Eva M., Danso, Mogbekeloluwa, Bouwstra, Joke A., Hennies, Hans C., Moll, Ingrid, Schmuth, Matthias ORCID: 0000-0002-4064-1334 and Brandner, Johanna M.
(2015).
Diverse Regulation of Claudin-1 and Claudin-4 in Atopic Dermatitis.
Am. J. Pathol., 185 (10).
S. 2777 - 2790.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1525-2191
Hotz, Alrun ORCID: 0000-0003-2560-3951, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette ORCID: 0000-0002-3004-0180, Tantcheva-Poor, Iliana, Hellstrom Pigg, Maritta, Has, Cristina ORCID: 0000-0001-6066-507X, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Suessmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter ORCID: 0000-0002-3734-753X, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders and Fischer, Judith ORCID: 0000-0002-8580-8118
(2021).
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Genes, 12 (1).
BASEL:
MDPI.
ISSN 2073-4425
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
Lima Cunha, Dulce ORCID: 0000-0002-6814-8365, Oram, Amanda, Gruber, Robert, Plank, Roswitha, Lingenhel, Arno, Gupta, Manoj K., Altmuller, Janine ORCID: 0000-0003-4372-1521, Nurnberg, Peter ORCID: 0000-0002-7228-428X, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Zschocke, Johannes ORCID: 0000-0002-0046-8274, Saric, Tomo, Eckl, Katja M. and Hennies, Hans C.
(2021).
hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers.
Int. J. Mol. Sci., 22 (4).
BASEL:
MDPI.
ISSN 1422-0067