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Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease
Santosh Kumar,Oleg Borisov,Carlo Maj,Damian J. Ralser,Aytaj Humbatova, S. Hanneken,Astrid Schmieder, Jolanta. Gross, Laura Maintz, André Heineke, Jana Knuever,Christina Fagerberg,Laurent Parmentier, Waltraud Anemüller, Vinzenz Oji,Iliana Tantcheva‐Poór,Regina Fölster-Holst,Joerg Wenzel,Peter Krawitz,Jorge Frank, Regina C. Betz
˜The œjournal of investigative dermatology/Journal of investigative dermatologyno. 1 (2024): 181-184
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Ep182: KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping
Gholson Lyon, Lily Guo, Jiyeon Park, Edward Yi,Elaine Marchi,Yana Kibalnyk, Anastassia Voronova,Tzung-Chien Hsieh,Peter Krawitz
Genetics in medicineno. 3 (2022): S112-S113
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GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors
Peter Krawitz,Tzung-Chien Hsieh, Aviram Bar-Haim,Shahida Moosa, Nadja Ehmke,Karen Gripp,Jean Tori Pantel,Magdalena Danyel, Martin-Atta Mensah,Denise Horn,Nicole Fleischer, Guilherme Bonini, Alexander Schmid,Alexej Knaus, Sugirthan Sivalingam,Tom Kamphans,Frédéric Ebstein,Elke Krüger, Sébastien KURY,Stephane Bezieau, Axel Schmidt, Sophia Peters,Hartmut Engels,Elisabeth Mangold,Martina Kreiß,Kirsten Cremer,Claudia Perne, Regina Betz,Kathrin Grundmann-Hauser,Tobias Haack, Matias Wagner, T. Brunet, Heidi Beate Bentzen, Malte Spielmann, Christian Schaaf,Stefan Mundlos,Markus Nöthen
crossref（2021）
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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase plus remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes
Leigh C. Carmody, Hannah Blau, Daniel Danis, Xingman A. Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky,Peter Krawitz, Miles D. Thompson,Peter N. Robinson
ORPHANET JOURNAL OF RARE DISEASESno. 1 (2020)
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作者统计

#Papers: 8

#Citation: 5

H-Index: 2

G-Index: 2

Sociability: 5

Diversity: 0

Activity: 0

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