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Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal ORCID: 0000-0002-5240-079X, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing
ORCID: 0000-0001-5728-150X, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish
ORCID: 0000-0001-9037-701X, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina
ORCID: 0000-0001-9993-7319, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette
ORCID: 0000-0002-3004-0180, Simon, Michel
ORCID: 0000-0003-3655-6329, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter and Betz, Regina C.
(2022).
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
JAMA Dermatol., 158 (11).
S. 1245 - 1254.
CHICAGO:
AMER MEDICAL ASSOC.
ISSN 2168-6084
Basmanav, F. Buket U., Cau, Laura ORCID: 0000-0002-2480-536X, Tafazzoli, Aylar, Mechin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Bartels, Natalie Garcia, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J. P., Oprisoreanu, Ana-Maria
ORCID: 0000-0002-9409-0830, Wehner, Maria, Thiele, Holger, Altmueller, Janine, Nuerenberg, Peter, Swan, Daniel
ORCID: 0000-0001-8978-8129, Houniet, Darren, Buechner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette
ORCID: 0000-0002-3004-0180, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz
ORCID: 0000-0003-1380-4828, Hamm, Henning, Farrant, Paul, Simon, Michel
ORCID: 0000-0003-3655-6329 and Betz, Regina C.
(2016).
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Am. J. Hum. Genet., 99 (6).
S. 1292 - 1305.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Kluemper, Niklas, Ralser, Damian J., Zarbl, Romina, Schlack, Katrin, Schrader, Andres Jan, Rehlinghaus, Marc, Hoffmann, Michele J., Niegisch, Guenter, Uhlig, Annemarie, Trojan, Lutz, Steinestel, Julie, Steinestel, Konrad, Wirtz, Ralph M., Sikic, Danijel, Eckstein, Markus, Kristiansen, Glen, Toma, Marieta, Hoelzel, Michael, Ritter, Manuel, Strieth, Sebastian, Ellinger, Joerg and Dietrich, Dimo (2021). CTLA4 promoter hypomethylation is a negative prognostic biomarker at initial diagnosis but predicts response and favorable outcome to anti-PD-1 based immunotherapy in clear cell renal cell carcinoma. J. Immunother. Cancer, 9 (8). LONDON: BMJ PUBLISHING GROUP. ISSN 2051-1426
Ralser, Damian J., Basmanav, F. Buket Ue., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michelle, Pulimood, Susanne A., Altmueller, Janine, Nuernberg, Peter, Lacombe, Didier ORCID: 0000-0002-8956-2207, Hillen, Uwe, Wenzel, Joerg, Frank, Jorge, Odermatt, Benjamin and Betz, Regina C.
(2017).
Mutations in gamma-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
J. Clin. Invest., 127 (4).
S. 1485 - 1491.
ANN ARBOR:
AMER SOC CLINICAL INVESTIGATION INC.
ISSN 1558-8238
Weitensteiner, Valerie, Zhang, Rong, Bungenberg, Julia, Marks, Matthias, Gehlen, Jan, Ralser, Damian J., Hilger, Alina C., Sharma, Amit ORCID: 0000-0002-2216-5389, Schumacher, Johannes, Gembruch, Ulrich
ORCID: 0000-0001-8284-4669, Merz, Waltraut M., Becker, Albert, Altmueller, Janine, Thiele, Holger, Herrmann, Bernhard G., Odermatt, Benjamin, Ludwig, Michael and Reutter, Heiko
(2018).
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.
Birth Defects Res., 110 (7).
S. 587 - 598.
HOBOKEN:
WILEY.
ISSN 2472-1727