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المؤلفون: Minrong Ai, Cynthia F. Bartels, Stefan Höning, Christian Kubisch, Oya Uyguner, Christian Netzer, Alfredo Ramirez, Franz-Georg Hanisch, Bernd Wollnik, Hülya Kayserili, Abdullah Uzumcu, Matthew L. Warman, Peter Nürnberg, Jan Freudenberg, Gudrun Nürnberg, Boi-Dinh Chung
المصدر: Human Mutation. 30:641-648
مصطلحات موضوعية: Male, Signal peptide, Eye Diseases, Genotype, Turkey, Recombinant Fusion Proteins, Blotting, Western, Population, Alu element, Protein Sorting Signals, Biology, medicine.disease_cause, Cell Line, Gene Frequency, Trinucleotide Repeats, Leucine, Genetics, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Luciferases, education, Allele frequency, Peptide sequence, LDL-Receptor Related Proteins, Genetics (clinical), Family Health, Mutation, education.field_of_study, Base Sequence, Syndrome, Molecular biology, Pedigree, Low Density Lipoprotein Receptor-Related Protein-5, Dynamic mutation, Osteoporosis, Female, Trinucleotide repeat expansion
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2
المؤلفون: Josef Assheuer, Andreas Harzheim, Boi-Dinh Chung, Fritz G. Lehnhardt, Heiko Bewermeyer, Christian Netzer, Tim H. Brümmendorf, Jens Kuhn, Simon Harnier, Ute Brassat
المصدر: European Neurology. 61:154-158
مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, medicine.diagnostic_test, fungi, food and beverages, Magnetic resonance imaging, Molecular evidence, Cavernous malformations, medicine.disease, medicine.disease_cause, Spinal cord, Cerebral cavernous malformations, Frameshift mutation, medicine.anatomical_structure, Neurology, Anticipation (genetics), medicine, Neurology (clinical), Psychology, Neuroscience
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المؤلفون: Ayca Dilruba Aslanger, Hanan Hamamy, Bernd Wollnik, Joachim Herz, Asim Cenani, Peter Nürnberg, Hülya Kayserili, Mona Aglan, Jill Clayton-Smith, Boi Dinh Chung, Ferda Percin, Christian Becker, Peter J. Scambler, Gudrun Nürnberg, Samia A. Temtamy, Jill E. Urquhart, Christian Netzer, Khalda Amr, Nursel Elcioglu, Yun Li, Wafaa Eyaid, Barbara Pawlik, Samira Ismail, FR Goodman, Gökhan Yigit, Raoul C.M. Hennekam
المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics, Li, Yun, Pawlik, Barbara, Elcioglu, Nursel, Aglan, Mona, Kayserili, Huelya, Yigit, Goekhan, Percin, Ferda, Goodman, Frances, Nuernberg, Gudrun, Cenani, Asim, Urquhart, Jill, Chung, Boi-Dinh, Ismail, Samira, Amr, Khalda, Aslanger, Ayca D., Becker, Christian, Netzer, Christian, Scambler, Pete, Eyaid, Wafaa, Hamamy, Hanan, Clayton-Smith, Jill, Hennekam, Raoul, Nuernberg, Peter, Herz, Joachim, Temtamy, Samia A., Wollnik, Bernd
المصدر: American journal of human genetics, 86(5), 696-706. Cell Press
مصطلحات موضوعية: Candidate gene, MODELS, Limb Deformities, Congenital, Oligodactyly, Cenani Lenz syndrome, Biology, Kidney, Article, FACIAL DYSMORPHISM, RENAL HYPOPLASIA, Genetics, medicine, TOOL, Limb development, Humans, Genetics(clinical), Genetics (clinical), LDL-Receptor Related Proteins, beta Catenin, COMPLEX, LINKAGE ANALYSIS, RECEPTOR, Wnt signaling pathway, PATHWAYS, Kidney metabolism, LRP5, Oncogenes, Syndrome, medicine.disease, FAMILY, Receptors, LDL, Low Density Lipoprotein Receptor-Related Protein-6, Mutation, Kidney Diseases, Syndactyly, Congenital disorder, Signal Transduction
وصف الملف: application/pdf
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المؤلفون: Jens, Kuhn, Tim H, Brümmendorf, Ute, Brassat, Fritz G, Lehnhardt, Boi-Dinh, Chung, Simon, Harnier, Heiko, Bewermeyer, Andreas, Harzheim, Josef, Assheuer, Christian, Netzer
المصدر: European neurology. 61(3)
مصطلحات موضوعية: Adult, Male, Aging, Anticipation, Genetic, Spinal Cord Vascular Diseases, DNA Mutational Analysis, Brain, Middle Aged, Telomere, Magnetic Resonance Imaging, Pedigree, Cerebrovascular Disorders, Phenotype, Spinal Cord, Humans, Family, Lymphocytes, Frameshift Mutation, Aged, Follow-Up Studies, Granulocytes
