المؤلفون: Draaken, M, Baudisch, F, Timmermann, B, Kuhl, H, Kerick, M, Proske, J, Wittler, L, Pennimpede, T, Ebert, AK, Rosch, W, Stein, R, Bartels, E, von Lowtzow, C, Boemers, TM, Herms, S, Gearhart, JP, Lakshmanan, Y, Kockum, CC, Holmdahl, G, Lackgren, G, Nordenskjold, A, Boyadjiev, SA, Herrmann, BG, Nothen, MM, Ludwig, M, Reutter, H

المصدر: Birth defects research. Part A, Clinical and molecular teratology. 100(6):512-517

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129246667

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المؤلفون: Massimo Di Grazia, Markus M. Nöthen, Andrea Hofmann, Heiko Reutter, Carlo M. Marcelis, Rong Zhang, Nicola Migone, Raimund Stein, Wolfgang Rösch, Anne-Karoline Ebert, Catharina von Lowtzow, Florian Marsch, Wouter F.J. Feitz, Markus Draaken, Susanne Moebus, Thomas M. Boemers, Karin Hirsch, Alfredo Brusco, Michael Ludwig

المساهمون: von Lowtzow, C, Hofmann, A, Zhang, R, Marsch, F, Ebert, Ak, Rösch, W, Stein, R, Boemers, Tm, Hirsch, K, Marcelis, C, Feitz, Wf, Brusco, A, Migone, N, DI GRAZIA, Massimo, Moebus, S, Nöthen, Mm, Reutter, H, Ludwig, M, Draaken, M.

المصدر: BMC Medical Genetics, 17, 1, pp. 35-35
BMC Medical Genetics, 17, 35-35
BMC Medical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Bladder exstrophy-epispadias complex, Genetic testing, endocrine system diseases, Copy number variation, EFNB1, Chromosomes, Human, Pair 22, Medizin, Aneuploidy, Chromosome Disorders, 030105 genetics & heredity, urologic and male genital diseases, Bioinformatics, Medizinische Fakultät, Chromosome Duplication, Gene duplication, Genetics(clinical), Eye Abnormalities, Copy-number variation, Genetics (clinical), Oligonucleotide Array Sequence Analysis, medicine.diagnostic_test, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Cytogenetic Analysis, Chromosomal region, Paternal Inheritance, Female, Maternal Inheritance, Research Article, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Urology, Biology, 03 medical and health sciences, mental disorders, medicine, Genetics, Humans, ddc:610, Bladder Exstrophy, Cytogenetics, medicine.disease, Bladder exstrophy, 030104 developmental biology, Etiology

وصف الملف: ELETTRONICO; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf6c82c21115261b68df2d6e85a16d0
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-016-0299-x

المؤلفون: von Lowtzow C; Institute of Human Genetics, University of Bonn, Bonn, Germany., Hofmann A; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany., Zhang R; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany., Marsch F; Institute of Human Genetics, University of Bonn, Bonn, Germany., Ebert AK; Department of Urology and Pediatric Urology, Ulm, Germany., Rösch W; Department of Pediatric Urology, St. Hedwig Hospital Barmherzige Brüder, Regensburg, Germany., Stein R; Department of Pediatric and Adolescent Urology, University of Mannheim, Mannheim, Germany., Boemers TM; Department of Pediatric Surgery and Pediatric Urology, Children's Hospital of Cologne, Cologne, Germany., Hirsch K; Department of Urology, Division of Pediatric Urology, University of Erlangen-Nürnberg, Erlangen, Germany., Marcelis C; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Feitz WF; Pediatric Urology Center, Department of Urology, Radboud University Medical Centre, Nijmegen, The Netherlands., Brusco A; Department of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino, Torino, Italy., Migone N; Department of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino, Torino, Italy., Di Grazia M; Institute for Maternal and Child Health, IRCCS Burlo Garofalo, Trieste, Italy., Moebus S; Institute of Medical Informatics, Biometry, and Epidemiology, University Hospital of Essen, University Duisburg-Essen, Essen, Germany., Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany., Reutter H; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, University of Bonn, Bonn, Germany., Ludwig M; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Sigmund-Freud-Str. 25, Bonn, D-53127, Germany. mludwig@uni-bonn.de., Draaken M; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany.

المصدر: BMC medical genetics [BMC Med Genet] 2016 Apr 30; Vol. 17 (1), pp. 35. Date of Electronic Publication: 2016 Apr 30.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations*, Bladder Exstrophy/*genetics , Cytogenetic Analysis/*methods , Oligonucleotide Array Sequence Analysis/*methods, Aneuploidy ; Chromosome Disorders/genetics ; Chromosome Duplication ; Chromosomes, Human, Pair 22/genetics ; Eye Abnormalities/genetics ; Female ; Humans ; Male ; Maternal Inheritance ; Paternal Inheritance

SCR Disease Name: Schmid-Fraccaro syndrome