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المؤلفون: Lisbeth Tranebjerg, Zeynep Tümer, Iben Bache, Maria Orera, Vera M. Kalscheuer, Elisabeth Blennow, Val Davison, Klaus Wagner, David R. FitzPatrick, Isidora Lopez-Pajares, Laurence Duprez, Maj Hultén, Sultan Cingoz, Sophie Dahoun, Niels Tommerup, Margarita Stefanova, Ingo Hansmann, Jan Murken, Maryse Bonduelle, Bruno Dallapiccola, M.-F. Croquette, Tony Parkin, Kirsten Winther, Kim Smith, Fiorella Shabtai, Kirsten Rasmussen, Catherine Turleau, Claes Lundsteen, Anita Niebuhr, Elvire Van Assche, Gotthold Barbi, Eberhard Schwinger, Carl Birger van der Hagen, Bruno Delobel, Philippe Jonveaux, Nadja Kokalj Vokac, Peter Jensen, Inge Liebaers, Mads F. Hjorth, Georges Bourrouillou, Merete Bugge, Carmen Ramos, Regine Schubert, Leopoldo Zelante, Werner Schempp, Eberhard Passarge, Carmen Ayuso, Herman Tournaye, James Lespinasse, Malcolm A. Ferguson-Smith, Ulf Kristoffersson, Jan Wahlstroem, Gert Bruun-Petersen, Hans-Christoph Duba, Karen Brøndum-Nielsen, Michel Vekemans, Elizabeth Grace, Raymond L. Stallings, Jean McGowan-Jordan
المصدر: University of Copenhagen
مصطلحات موضوعية: Infertility, Genetics, Chromosome Aberrations, Male, medicine.medical_specialty, Cytogenetics, Chromosome, Chromosomal translocation, Karyotype, Locus (genetics), Oligospermia, Biology, medicine.disease, Translocation, Genetic, Male infertility, Chromosomes, Human, Pair 1, Chromosome Inversion, medicine, Humans, Genetics (clinical), Infertility, Male, Chromosomal inversion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45e7b3a73407cfbd694bd1f4fa97aaa8Test
https://avesis.deu.edu.tr/publication/details/290330f0-f425-49bd-b49a-b4246cce8d2e/oaiTest -
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المؤلفون: Huanming Yang, Xiaoxiao Zhang, Donna G. Albertson, Anita Niebuhr, Lars Bolund, Xiuqing Zhang, Joe W. Gray, Antoine M. Snijders, Erik Niebuhr, Richard Segraves, Daniel Pinkel
المصدر: Zhang, X, Snijders, A, Zhang, X, Segraves, R, Niebuhr, A, Albertson, D, Yang, H, Gray, J, Niebuhr, E, Bolund, L & Pinkel, D 2005, ' High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. ', Am. J. Hum. Genet., vol. 76, pp. 312-326 .
مصطلحات موضوعية: Adult, Cri-du-Chat Syndrome, Cri du chat, Genotype, Cri du Chat Syndrome, DNA Mutational Analysis, Biology, Severity of Illness Index, Gene mapping, Intellectual Disability, Genetics, medicine, Humans, Genetics(clinical), Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Bacterial artificial chromosome, Chromosome Mapping, Nucleic Acid Hybridization, Articles, medicine.disease, Phenotype, Speech delay, Chromosomes, Human, Pair 5, medicine.symptom, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42c697e9b070c02ce86427874724ede0Test
https://pubmed.ncbi.nlm.nih.gov/15635506Test -
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المؤلفون: Anita Niebuhr, Kirsten Fenger, R.B. Barkardottir, B. Ejlertsen, Åke Borg, J.H. Olsen, H.T. Mouridsen, Erik Niebuhr, K.V. Nielsen, S. Klausen, K. Winther, Theresa Larriba Harboe, Jon Thor Bergthorsson
المصدر: Journal of medical genetics. 38(6)
مصطلحات موضوعية: Oncology, Adult, medicine.medical_specialty, Heterozygote, endocrine system diseases, Denmark, Genes, BRCA1, Breast Neoplasms, Breast cancer, Germline mutation, Internal medicine, Genetics, medicine, Cancer Family, Humans, Family history, Mutation frequency, Age of Onset, skin and connective tissue diseases, Genetics (clinical), Germ-Line Mutation, BRCA2 Protein, Family Health, Ovarian Neoplasms, business.industry, Cancer, Original Articles, medicine.disease, Cancer registry, Neoplasm Proteins, Pedigree, Endocrinology, Mutation, Female, business, Ovarian cancer, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4746c12162a3f296c33d2a1ac978fcTest
https://pubmed.ncbi.nlm.nih.gov/11389159Test