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المؤلفون: Amelie T. van der Ven, Stefanie Märzheuser, Ferdinand Kosch, Boris Wittekindt, Ekkehart Jenetzky, Matthias Schäfer, Nicole Spychalski, Florian Marsch, Andrea Schmedding, Barbara Gomez, Markus Palta, Nadine Zwink, Katharina Kleine, Eeberhard Schmiedeke, Franziska Degenhardt, Sabine Grasshoff-Derr, Heiko Reutter, Franziska Kause, Johannes Leonhardt, Michael Ludwig, Haitham Bachour, Oliver Johannes Deffaa, Rong Zhang, Jörg Neser, Thomas M. Boemers, Stefanie Heilmann-Heimbach, Martin Lacher, Bernd Hoppe, Benno M. Ure
المصدر: Birth Defects Research. 109:1063-1069
مصطلحات موضوعية: 0301 basic medicine, Embryology, medicine.medical_specialty, Pathology, Health, Toxicology and Mutagenesis, Tracheoesophageal fistula, Disease, 030105 genetics & heredity, Toxicology, digestive system, Gastroenterology, 03 medical and health sciences, Internal medicine, medicine, In patient, Copy-number variation, business.industry, Karyotype, medicine.disease, VACTERL association, digestive system diseases, 030104 developmental biology, Atresia, Pediatrics, Perinatology and Child Health, Chromosomal region, business, Developmental Biology
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المؤلفون: Erwin Brosens, H. Berna Beverloo, Hitisha P. Zaveri, Michael Ludwig, Martin Lacher, Benno M. Ure, Daryl A. Scott, Robert van der Helm, Alice Hölscher, Elisabeth M. de Jong, Diane Van Opstal, Annelies de Klein, Florian Marsch, Dick Tibboel, Alina C. Hilger, Thomas M. Boemers, Rene M. H. Wijnen, Alice S. Brooks, Stefan Herms, Vera Choinitzki, Hanneke IJsselstijn, Per Hoffmann, Hannie Douben, Johannes Schumacher, Yolande van Bever, Bert H.J. Eussen, Heiko Reutter
المصدر: European Journal of Human Genetics. 24:1715-1723
مصطلحات موضوعية: Adult, 0301 basic medicine, Oncology, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, DNA Copy Number Variations, endocrine system diseases, Genome-wide association study, Tracheoesophageal fistula, Biology, Bioinformatics, Article, 03 medical and health sciences, Genetic linkage, Internal medicine, Molecular genetics, mental disorders, Genetics, medicine, Humans, Copy-number variation, Child, Esophageal Atresia, Genetics (clinical), medicine.disease, Human genetics, 3. Good health, 030104 developmental biology, Genetic Loci, Atresia, Medical genetics, Genome-Wide Association Study, Tracheoesophageal Fistula
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المؤلفون: Heiko Reutter, Florian Marsch, Janine Altmüller, Rong Zhang, Michael Ludwig, Franziska Kause, Holger Thiele
المصدر: Molecular Medicine Reports.
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Cancer Research, animal structures, RNA Splicing, DNA Mutational Analysis, Nerve Tissue Proteins, medicine.disease_cause, Biochemistry, 03 medical and health sciences, symbols.namesake, Zinc Finger Protein Gli3, Exome Sequencing, GLI3, Genetics, medicine, Humans, Protein Isoforms, Hedgehog Proteins, Sonic hedgehog, Esophageal Atresia, Molecular Biology, Exome sequencing, Sanger sequencing, Mutation, Polymorphism, Genetic, biology, Genetic heterogeneity, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, medicine.disease, Digenic inheritance, Pedigree, 030104 developmental biology, Oncology, Atresia, embryonic structures, biology.protein, symbols, Molecular Medicine, Female, Protein Tyrosine Phosphatases, Branchio-Oto-Renal Syndrome
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المؤلفون: Rong, Zhang, Florian, Marsch, Franziska, Kause, Franziska, Degenhardt, Eeberhard, Schmiedeke, Stefanie, Märzheuser, Bernd, Hoppe, Haitham, Bachour, Thomas M, Boemers, Matthias, Schäfer, Nicole, Spychalski, Jörg, Neser, Johannes, Leonhardt, Ferdinand, Kosch, Benno, Ure, Barbara, Gómez, Martin, Lacher, Oliver J, Deffaa, Markus, Palta, Boris, Wittekindt, Katharina, Kleine, Andrea, Schmedding, Sabine, Grasshoff-Derr, Amelie van der, Ven, Stefanie, Heilmann-Heimbach, Nadine, Zwink, Ekkehart, Jenetzky, Michael, Ludwig, Heiko, Reutter
المصدر: Birth defects research. 109(13)
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, DNA Copy Number Variations, Karyotype, Anal Canal, Anorectal Malformations, Spine, Anus, Imperforate, Trachea, Radius, Esophagus, Phenotype, Karyotyping, Animals, Humans, Abnormalities, Multiple, Female
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المؤلفون: Waltraut M. Merz, Andrea Hofmann, Alina C. Hilger, Florian Marsch, Michael Ludwig, Sophia K. Krutzke, Dietlinde Stienen, Heiko Reutter, Madita M. Schumann, Ulrich Gembruch
المصدر: Journal of Neurodevelopmental Disorders
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Brain malformation, Neurology, Cognitive Neuroscience, Central nervous system, Disease, De novo occurrence, Biology, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, medicine, Copy-number variation, Fetus, Array-based karyotyping, Research, Isolated brain, Human genetics, Copy number variation (CNV), 030104 developmental biology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), 030217 neurology & neurosurgery
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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 Geneticsمصطلحات 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
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