-
1دورية أكاديمية
المؤلفون: Syed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, Axel Schmidt, Fazal urRehman, Muhammad Naeem, Abdul Samad Tareen, Sabrina Wolf, Muhammad Anwar Panezai, Holger Thiele, Abdul Wali, Regina Fölster-Holst, Sulman Basit, Muhammad Ayub, Regina C. Betz
المصدر: Acta Dermato-Venereologica, Vol 100, Iss 16, p adv00275 (2020)
مصطلحات موضوعية: epidermolysis bullosa, exome sequencing, missense mutation, splicing, col7a1, Dermatology, RL1-803
وصف الملف: electronic resource
-
2
المؤلفون: Xing Xiong, Syed Ashraf Uddin, Sobia Munir, Nicole Cesarato, Holger Thiele, Noor Hassan, Surjeet Kumar, Fazal Ur Rehman, Muhammad Naeem, Abdul Wali, Sulman Basit, F Buket Basmanav, Muhammad Ayub, Regina C Betz
المصدر: Clinical and Experimental Dermatology. 48:434-437
مصطلحات موضوعية: Dermatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1d56958d1dd2535ede95a2d919bedf69
https://doi.org/10.1093/ced/llad042 -
3
المؤلفون: F. Buket Basmanav, Nicole Cesarato, Sheetal Kumar, Oleg Borisov, Pavlos Kokordelis, Damian J. Ralser, Maria Wehner, Daisy Axt, Xing Xiong, Holger Thiele, Vadim Dolgin, Yasmina Gossmann, Nadine Fricker, Malin Katharina Dewenter, Karsten Weller, Mohnish Suri, Herbert Reichenbach, Vinzenz Oji, Marie-Claude Addor, Karla Ramirez, Helen Stewart, Natalie Garcia Bartels, Lisa Weibel, Nicola Wagner, Susannah George, Arzu Kilic, Iliana Tantcheva-Poor, Alison Stewart, Nicola Dikow, Bettina Blaumeiser, Márta Medvecz, Ulrike Blume-Peytavi, Paul Farrant, Ramon Grimalt, Sara Bertok, Lisa Bradley, Marina Eskin-Schwartz, Ohad Samuel Birk, Anette Bygum, Michel Simon, Peter Krawitz, Christine Fischer, Henning Hamm, Günter Fritz, Regina C. Betz
المصدر: JAMA dermatology
مصطلحات موضوعية: Male, Cohort Studies, Transglutaminases, Exome Sequencing, Humans, Female, Human medicine, Dermatology, Hair Diseases, Hair
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d98f654eadba90de7c6182c524354d
https://pubmed.ncbi.nlm.nih.gov/36044230 -
4
المؤلفون: Sokounthie Ou, Nicole Cesarato, Pierre Mauran, Marie‐Paule Gellé, Holger Thiele, Regina C. Betz, Manuelle Viguier, Laurence Gusdorf
المصدر: Clinical and Experimental Dermatology. 47:1424-1426
مصطلحات موضوعية: Desmoplakins, Keratoderma, Palmoplantar, Mutation, Missense, Humans, Female, Dermatology, Hair Diseases, Anodontia
-
5
المؤلفون: Holger Thiele, Mariam Ghughunishvili, Maria Wehner, Cristina Has, Axel Schmidt, Daisy Axt, Nicole Cesarato, Matthias Geyer, Regina C. Betz, Fitnat Buket Basmanav, Michael J. Lentze
المصدر: American Journal of Medical Genetics Part A. 185:3900-3904
مصطلحات موضوعية: Male, Adolescent, Hypotrichosis, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Intramolecular Transferases, Gene, Genetics (clinical), biology, Alopecia, medicine.disease, Phenotype, Pedigree, Neurodevelopmental Disorders, Hypotrichosis simplex, Child, Preschool, Mutation, biology.protein, Female, Lanosterol synthase, Congenital Alopecia
-
6
المؤلفون: Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, Petra Gierthmuehlen, Jörg Schaper, Daniel Schlieper, Maria Wehner, Holger Thiele, Jorge Frank, Regina C. Betz, Silke Redler
المصدر: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG. 20(6)
مصطلحات موضوعية: Tumor Suppressor Proteins, Humans, Dermatology, Transcription Factors
-
7
المؤلفون: Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, Petra Gierthmuehlen, Jörg Schaper, Daniel Schlieper, Maria Wehner, Holger Thiele, Jorge Frank, Regina C. Betz, Silke Redler
المصدر: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG. 20(6)
مصطلحات موضوعية: Phenotype, Tumor Suppressor Proteins, Mutation, Humans, Dermatology, Transcription Factors
-
8
المؤلفون: Bettina Blaumeiser, A Patiño-García, X Yu, Utz Fischer, F Chen, Yu Li, R Cheng, A Catalán-Lambán, Nicole Cesarato, Aytaj Humbatova, Clemens Grimm, L Zheng, Regina C. Betz, Yao Zhixian, Maolan Li, C Pan
المصدر: British journal of dermatology
مصطلحات موضوعية: Genetics, Mutation, Humans, Dermatology, Human medicine, Biology, Hypotrichosis, snRNP Core Proteins, Hereditary hypotrichosis simplex, Pedigree
-
9
المؤلفون: Sugirthan Sivalingam, Sheetal Kumar, Karl Heinz Grzeschik, Fabian Hauck, Xiujuan Sun, Armand Bottani, Janine Altmüller, Shangzhi Dai, Peter M. Kroisel, Fanny Kortüm, Aytaj Humbatova, Scott D. Walter, Yuan Wu, Wen Qin, Xinwu Niu, Mingyang Lee, Regina C. Betz, Gianluca Tadini, Kerstin Kutsche, Andreas Buness, Katta M. Girisha, Songmei Geng, Maria Teresa Romano, Huijun Wang, Yuanxiang Liu, Lin Ma, Susanne Motameny, Shuxia Yang, Nicole Cesarato, Zhimiao Lin, Xiaopeng Wang, Ran Mo, Anne Marie Calza, Dorothea Bornholdt
المصدر: Am J Hum Genet
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Chromosomal translocation, Biology, Article, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Transcription (biology), Keratin, Genetics, medicine, Humans, Child, Gene, Transcription factor, Genetics (clinical), chemistry.chemical_classification, Arthrogryposis, integumentary system, Genetic disorder, Keratosis, Middle Aged, medicine.disease, Molecular biology, Sterol regulatory element-binding protein, Pedigree, 030104 developmental biology, Phenotype, chemistry, Gene Expression Regulation, Child, Preschool, Mutation, Hypotrichosis, Female, Sterol Regulatory Element Binding Protein 1
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9680a4ec39a1ad19d3c325026208f5
https://europepmc.org/articles/PMC7332643/ -
10
المؤلفون: Sari Assaf, Talia Canter, Arti Nanda, Kiril Malovitski, Eli Sprecher, Nicole Cesarato, Yossi Anis, Liat Samuelov, Bethany E. Perez White, Dan Vodo, Regina C. Betz, J. Mohamad, Holger Thiele, Andrea Gat, Amy S. Paller, M. Pavlovsky, Ofer Bihari, L. Malki, Ofer Sarig
المصدر: Genet Med
مصطلحات موضوعية: 0301 basic medicine, Genes, Recessive, 030105 genetics & heredity, Biology, Hypotrichosis, Inner root sheath, Article, 03 medical and health sciences, medicine, Humans, Receptors, Lysophosphatidic Acid, Receptor, Exome, Gene, Genetics (clinical), LPAR6, Homozygote, Alopecia, Hair follicle, medicine.disease, Molecular biology, Pedigree, Reverse transcription polymerase chain reaction, 030104 developmental biology, medicine.anatomical_structure, lipids (amino acids, peptides, and proteins), Lysophospholipids, Desmogleins
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9538a579fc561f5b84f567136c3adc2d
https://europepmc.org/articles/PMC7405639/