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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
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المؤلفون: Thomas Scholbach, Herbert Reichenbach
المصدر: Klinische Pädiatrie. 206:447-451
مصطلحات موضوعية: medicine.medical_specialty, Pregnancy, Pediatrics, business.industry, media_common.quotation_subject, Provocation test, Hemodynamics, medicine.disease, humanities, Surgery, medicine.anatomical_structure, Aneurysm, Pediatrics, Perinatology and Child Health, medicine, Reflex, Girl, Roberts syndrome, business, media_common, Interatrial septum
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3
المؤلفون: Christian Ramel, Marina Manvelyan, Christina Kelbova, Jeannette Lancé, Monika Ziegler, Catharina Schmidt, Elisabeth Ewers, Thomas Liehr, Herbert Reichenbach, Friedrich W Cremer, Nadezda Kosyakova, Katharina Kreskowski, Rüdiger Kläs
المصدر: Molecular Cytogenetics, Vol 4, Iss 1, p 1 (2011)
Molecular Cytogeneticsمصطلحات موضوعية: Biochemistry, medical, Genetics, medicine.medical_specialty, Autosome, lcsh:QH426-470, Euchromatin, Research, Biochemistry (medical), Cytogenetics, Chromosome, Biology, Biochemistry, Genome, Human genetics, lcsh:Genetics, medicine, Molecular Medicine, Genetics(clinical), Human genome, Copy-number variation, Molecular Biology, Genetics (clinical)
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المؤلفون: Dominique Bonneau, Asbjørg Stray-Pedersen, Nathalie Biebuyck-Gouge, Georges Deschênes, Nihal Özdemir, Barbara Hinkelmann, Sandra Cockfield, Stavroula Psoni, Guiliana Lama, David V. Milford, Maria Kanariou, Helen Fryssira, Anja Stein, Lawrence R. Shoemaker, Silvia Majore, Sarah F. Smithson, Natasa Stajic, Isabel Cordeiro, Onur Sakallioglu, Belde Kasap, Helen Georgaki, Beate Schmidt, Valérie Cormier-Daire, Newton A C S Wong, Bertram F. Pontz, Radovan Bogdanovic, Flora Sotsiou, Encarna Guillén-Navarro, Doris Taha, Cornelius F. Boerkoel, Graham Smith, Sara Sebnem Kilic, Kunho Choi, Stefan Fründ, Karel Cutka, J. Marietta Clewing, Shu Lou, Petra Lamfers, Karlien Cransberg, Emily A. Sloan, Pierre Cochat, Yumi Asakura, Chantal Loirat, Jochen H. H. Ehrich, Denis Morin, Jane Tizard, Herbert Reichenbach, David Goodman, Michel Tsimaratos, Cristina Rusu, Laure Collard, Harika Alpay, Yan Huang, Jorge M. Saraiva, Sabine Sigaudy, Willem Proesmans, Thomas Lücke, Sophie Taque, Jean Luc André, Caterina Cancrini, Silke Reif
مصطلحات موضوعية: Male, DNA Mutational Analysis, Biology, Osteochondrodysplasias, Genocopy, Locus heterogeneity, Genetic variation, Genetics, medicine, Humans, Genetic Testing, Allele, Child, Genetics (clinical), Genetic testing, Settore MED/38 - Pediatria Generale e Specialistica, medicine.diagnostic_test, Schimke immuno-osseous dysplasia, Haplotype, DNA Helicases, Immunologic Deficiency Syndromes, Infant, Newborn, Genetic Variation, Infant, Oligogenic Inheritance, medicine.disease, Phenotype, Child, Preschool, Female, Algorithms