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المؤلفون: Fikret Erdogan, Andreas W. Kuss, Marzena Wisniewska, Hans-Hilger Ropers, Reinhard Ullmann, Lutz Pfeiffer, Maja Linné, Christina Kelbova, Vera M. Kalscheuer, Andreas Tzschach, Joanna Walczak-Sztulpa, Anna Latos-Bielenska, Britta Belitz
المصدر: American Journal of Medical Genetics Part A. :337-342
مصطلحات موضوعية: Adult, Male, Microcephaly, Candidate gene, Pathology, medicine.medical_specialty, Ring chromosome, Chromosomal translocation, Chromosome aberration, Intellectual Disability, Genetics, Humans, Medicine, Genetics (clinical), Chromosomes, Human, Pair 13, business.industry, Infant, Newborn, Infant, Chromosome, Karyotype, medicine.disease, Hypospadias, Child, Preschool, Karyotyping, Female, Chromosome Deletion, business
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المؤلفون: Simone Schiller, J. Seidel, Gudrun A. Rappold, F Zintl, Volkmar Beensen, Christina Kelbova, U Orth, Uwe Claussen, S Vogt
المصدر: Clinical Genetics. 59:115-121
مصطلحات موضوعية: musculoskeletal diseases, Genetics, Pseudoautosomal region, Dwarfism, Stippled epiphyses, Biology, medicine.disease, Y chromosome, Short Stature Homeobox Protein, medicine, Chondrodysplasia punctata, sense organs, Arylsulfatase E, Genetics (clinical), X chromosome
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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: Hartmut Peters, Fikret Erdogan, Stephanie Demuth, Vera M. Kalscheuer, Corinna Menzel, Hans-Hilger Ropers, Jan Jurkatis, Christina Kelbova, Sabine Weidensee, Reinhard Ullmann, Andreas Tzschach
المصدر: Ophthalmic Genetics
مصطلحات موضوعية: Forkhead Box Protein L2, Genetic counseling, DNA Mutational Analysis, Chromosomal translocation, Biology, Blepharophimosis, Nose, Translocation, Genetic, Ptosis, medicine, Blepharoptosis, Humans, Genetics (clinical), In Situ Hybridization, Fluorescence, Genetics, Chromosome, Infant, Chromosome Breakage, Forkhead Transcription Factors, Syndrome, medicine.disease, Premature ovarian failure, Ophthalmology, Chromosome Band, Chromosomes, Human, Pair 2, Pediatrics, Perinatology and Child Health, Skin Abnormalities, Female, Chromosomes, Human, Pair 3, medicine.symptom, Congenital disorder
وصف الملف: application/pdf
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المؤلفون: A Polityko, Anja Weise, Marina Manvelyan, Dilek Aktas, Hans-Christoph Duba, Thomas Liehr, Franck Pellestor, Daniela Reich, Peter Küpferling, Bernt Schulze, Hanne Tittelbach, Ute Hehr, Marie-Luise Mazaurik, Elisabeth Gödde, Mònica Santos, Thomas Martin, Isolde Schreyer, Sigrid Köhler, Marianne Volleth, Gisela Reising-Ackermann, Carme Fuster, Britta Belitz, Elisabeth Ewers, Jasen Anderson, Andreas Dufke, Mariluce Riegel, Kristin Mrasek, Christina Kelbova
المساهمون: University of Zurich, Liehr, Thomas
المصدر: ResearcherID
مصطلحات موضوعية: Adult, Male, Abortion, Habitual, Genotype, 10039 Institute of Medical Genetics, 610 Medicine & health, Biology, Chromosome Painting, Euchromatin, Evolution, Molecular, Molecular cytogenetics, 1311 Genetics, Genetic variation, Genetics, Humans, Supernumerary, Amenorrhea, Infertility, Male, Chromosome Aberrations, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 15, Genetic Variation, Chromosome, Karyotype, General Medicine, Chromosome Banding, Review Literature as Topic, Phenotype, Fertility problems, Infertility, Karyotyping, Cytogenetic Analysis, 570 Life sciences, biology, Female, Gene pool, Infertility, Female
وصف الملف: Manvelyan_et_al,_Thirty-two_new_cases].pdf - application/pdf
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المؤلفون: Christiane Bommer, Danuta Galetzka, Thomas Haaf, Ulrich Zechner, Angelika Daser, Christina Kelbova, Ruxandra Farcas, Peter Küpferling, Gundula Thiel, Ying Yue, Bärbel Grossmann
المصدر: European journal of human genetics : EJHG. 15(5)
مصطلحات موضوعية: Genetics, Male, Chromosomes, Human, Pair 12, Developmental Disabilities, Breakpoint, Genes, Homeobox, Chromosome, Chromosome Mapping, Chromosomal translocation, Chromosome Breakage, Biology, Translocation, Genetic, Musculoskeletal Abnormalities, Position effect, Child, Preschool, Gene cluster, Humans, Human genome, Gene, Genetics (clinical), Chromosome 12, Chromosomes, Human, Pair 17
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المؤلفون: Uwe Claussen, Heike Starke, Heidemarie Neitzel, Holger Tönnies, J. Seidel, Ilse Chudoba, Gabriele Senger, Felix Zintl, Christina Kelbova, Anita Heller, Claudia M. Haase, Thomas Liehr, Volkmar Beensen
المصدر: European journal of pediatrics. 162(9)
مصطلحات موضوعية: medicine.medical_specialty, Microcephaly, Pathology, Adolescent, G banding, Chromosomal translocation, Facial Bones, Translocation, Genetic, Molecular cytogenetics, Fingers, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Psychomotor retardation, business.industry, Chromosomes, Human, Pair 11, Mental Disorders, Cytogenetics, Chromosome, Karyotype, medicine.disease, Polydactyly, Chromosomes, Human, Pair 2, Pediatrics, Perinatology and Child Health, Cytogenetic Analysis, Female, medicine.symptom, Chromosomes, Human, Pair 4, business