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1Academic Journal
المؤلفون: Luis A. Méndez-Rosado, Norma de León-Ojeda, Alina García, Frenny Sheth, Asmaa Gaadi, Ahmed Aziz Bousfiha, Mouna Lehlimi, Abdelhafid Natiq, Oxana S. Kurinnaia, Svetlana G. Vorsanova, Ivan Iourov, Dagmar Huhle, Thomas Liehr
المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-8 (2022)
مصطلحات موضوعية: DiGeorge syndrome (DGS), del(22)(q11.2q11.2), Clinical features, Molecular diagnosis, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-2441
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المؤلفون: Pavlina Iliopoulou, Efstathios Tsitsopoulos, Ioannis Papaevripidou, Voula Velissariou, Dagmar Huhle, Maria Syrrou, Rozalia Neroutsou, Angelos Alexandrou, Stamatia-Maria Rapti, Monika Ziegler, Ludmila Kousoulidou, Marianna Robola, Sigrid Fuchs, Maja Hempel, Carolina Sismani, Athina Theodosiou, Max Duesberg, Magdalini Lagou, Thomas Liehr, Anastasia Spring
المصدر: Journal of Human Genetics. 65:783-795
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Heterozygote, Perinatal Death, Population, Chromosome 9, 030105 genetics & heredity, Biology, Identity by descent, 03 medical and health sciences, Pregnancy, Germany, Genetics, Humans, Child, education, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomal inversion, education.field_of_study, Greece, Haplotype, Infant, Newborn, Karyotype, Oligospermia, Microarray Analysis, Abortion, Spontaneous, Fertility, 030104 developmental biology, Karyotyping, Chromosome Inversion, Cyprus, Female, Chromosomes, Human, Pair 9, Founder effect
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المؤلفون: Steffen Syrbe, Michael Parker, Georg F. Hoffmann, Julian Schröter, Emilia K. Bijlsma, Deb K. Pal, Bernt Popp, Dagmar Huhle, L. Jestaedt, Stefan Kölker, A. van Haeringen, Heiko Brennenstuhl, Sonja Neuser, Johannes R. Lemke, S. H. Donze, Andreas Merkenschlager, Jan Henje Döring, D. Gräfe, Inga Harting, Stephanie Oates, Maria Arelin
المصدر: European Journal of Human Genetics, 30(3), 298-306. SPRINGERNATURE
مصطلحات موضوعية: Epilepsy, business.industry, Mutation, Missense, Nervous System Malformations, Phenotype, Pregnancy, Tubulin, Mutation, Genetics, Medicine, Humans, Female, business, Lissencephaly, Neuroscience, Genetics (clinical), Early onset
وصف الملف: application/pdf
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المؤلفون: Arif O. Khan, Susanne Markus, Raoul Heller, Solaf M. Elsayed, Ute Steinhauer, Heike M. Korbmacher, Kerstin Nagel-Wolfrum, Markus Pfister, Diana Mitter, Christian Decker, Birgit Lorenz, Markus N. Preising, Ingo Kennerknecht, Shahid Mahmood Baig, Heidi Stöhr, Cornelie Müller-Hofstede, Klaus Rohrschneider, Fabian Moeller, Peter Charbel Issa, Tobias Eisenberger, Christine Neuhaus, Hanno J. Bolz, Klaus Rüther, Sandra Nagl, Bodo B. Beck, Cornelia Blank, Dagmar Huhle, Hesham Taha
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Usher syndrome, Nonsense mutation, next‐generation sequencing, Biology, Gene mutation, Bioinformatics, 03 medical and health sciences, symbols.namesake, Retinitis pigmentosa, Genetics, medicine, otorhinolaryngologic diseases, Multiplex ligation-dependent probe amplification, Nonsyndromic deafness, Molecular Biology, Genetics (clinical), Sanger sequencing, Heimler syndrome, Copy number variation, Point mutation, Original Articles, medicine.disease, eye diseases, 030104 developmental biology, symbols, phenocopies, translational read‐through, Original Article
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المؤلفون: Christian L. Roth, Frauke Hornemann, Roland Pfäffle, Andreas Merkenschlager, Diana Le Duc, Dagmar Huhle
المصدر: Neuropediatrics. 51(1)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Levodopa, Neurodegeneration with brain iron accumulation, Neuroaxonal Dystrophies, 030105 genetics & heredity, Gastroenterology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, WDR45, Parkinsonian Disorders, Internal medicine, medicine, Humans, Child, Halo sign, Dystonia, medicine.diagnostic_test, business.industry, Infant, Magnetic resonance imaging, General Medicine, medicine.disease, Iron Metabolism Disorders, Magnetic Resonance Imaging, Globus pallidus, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, Spasms, Infantile, 030217 neurology & neurosurgery, medicine.drug
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المؤلفون: Julia Hentschel, Maria Arelin, B. Liesfeld, A. Finck, R. Abou Jamra, D. Le Duc, Tilman Polster, Petra Muschke, Dagmar Huhle, Tobias Bartolomaeus, Dagmar Wieczorek, Andreas Merkenschlager, Matthias K. Bernhard, Sabine Hoffjan, Ina Schanze, Peter Bauer, Wieland Kiess, M. Elgizouli, Constanze Heine, Konrad Platzer, Steffen Syrbe, Johannes R. Lemke, J.-U. Schlump, Saskia Biskup, Frauke Hornemann, Astrid Bertsche, N. Di Donato, Susanne B. Kamphausen, Benjamin Büttner, Roland Pfäffle, Diana Mitter, C. Baade-Buttner, Susanne Horn, Sonja Martin, R. Ewald, Martin Zenker, Alma Kuechler, Ilona Krey, Yorck Hellenbroich
مصطلحات موضوعية: Prioritization, Genetics, Candidate gene, Scoring system, DECIPHER, Biology, Exome, Research setting, Exome sequencing
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المؤلفون: Jacques L. Michaud, Jessica Sebastian, Hanrong Wu, Dick Lindhout, Karla Manzano-Vargas, Nuwan C. Hettige, Ingrid M. Wentzensen, Huashan Peng, Amy Crunk, Heika Silviera, Malvin Jefri, Henry Houlden, Fadi F. Hamdan, Zahia Aouabed, Stephanie Efthymiou, Xin Zhang, Renske Oegema, Arnaud Tanti, Jerry Vockley, Gustavo Turecki, Julien van Gils, Amber G. Begtrup, Christina Nassif, Gunnar Houge, Naomichi Matsumoto, Thomas Bourgeron, Jean-François Théroux, Emily Fassi, Noriko Miyake, Robert D. Nicholls, Jose E. Martinez, Kristin Herman, Lilit Antonyan, Philippe M. Campeau, Margaret G. Au, Dominic Nelson, Vincenzo Salpietro, Scott C. Bell, Pierre Priam, Joshua L. Deignan, Gregory M. Cooper, Rune Østern, Han G. Brunner, Dagmar Huhle, Amy Goldstein, John M. Graham, Christine Coubes, Koen L.I. van Gassen, Tabib Dabir, Maria Hafström, Simon Gravel, Sophie Ehresmann, Elsa Rossignol, Ilaria Kolobova, Walla Al-Hertani, Julie A. Lessard, Lionel Carmant, Sonja Martin, Richard Delorme, Carl Ernst, Jolien S. Klein Wassink-Ruiter, Naguib Mechawar, Yoshio Makita, Candice R. Finnila, Rami Abou Jamra, Anne Lortie, Justine Rousseau, Sarju G. Mehta, Lina Ghaloul-Gonzalez
المساهمون: MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, McGill University = Université McGill [Montréal, Canada], Université de Montréal (UdeM), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), GeneDx [Gaithersburg, MD, USA], University of California [Davis] (UC Davis), University of California, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, University of Calgary, UCL, Institute of Neurology [London], Yokohama City University (YCU), Asahikawa Medical College, Trondheim University, Haukeland University Hospital, University of Bergen (UiB), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), University of Groningen [Groningen], University Medical Center Groningen [Groningen] (UMCG), Children's Hospital of Pittsburgh of UPMC [Etats-Unis], Belfast City Hospital, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Child and Adolescent Psychiatry Department [AP- HP Hôpital Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), HudsonAlpha Institute for Biotechnology [Huntsville, AL], Children’s Rehabilitation Service [Mobile, AL] (CRS), Children's Rehabilitation Service [Montgomery, AL] (CRS), University Medical Center [Utrecht], Cambridge University Hospitals - NHS (CUH), University of Cambridge [UK] (CAM), University Hospital Leipzig, Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Cedars-Sinai Medical Center, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), We acknowledge funding by FRQS doctoral (S.B.), Indonesian Endowment Fund for Education PhD award (M.J.), CONACYT (Mexico) and MITACS (K.M.V.), Genome Canada and Génome Québec (J.L.M. and E.R.), Canada Research Chairs program (G.T. and C.E.), AMED, MEXT, JST, MHLW, and Takeda Science Foundation (N. Matsumoto), and CIHR grant (C.E. and P.M.C.)., University of California (UC), University of California (UC)-University of California (UC), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Radboud University [Nijmegen], Faculteit Medische Wetenschappen/UMCG
المصدر: American Journal of Human Genetics, 104, 5, pp. 815-834
American Journal of Human Genetics, 104(5), 815. Cell Press
American Journal of Human Genetics, 104(5), 815-834. Cell Press
American Journal of Human Genetics, 104, 815-834
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (5), pp.815-834. ⟨10.1016/j.ajhg.2019.03.022⟩
American Journal of Human Genetics, 2019, 104 (5), pp.815-834. ⟨10.1016/j.ajhg.2019.03.022⟩
American Journal of Human Genetics, 104(5), 815-834. CELL PRESSمصطلحات موضوعية: 0301 basic medicine, Male, PROTEIN EXPRESSION, Chromosomal Proteins, Non-Histone, Mutant, MESH: Neurons, 0302 clinical medicine, SYNAPTIC PLASTICITY, MESH: Child, Genetics(clinical), Global developmental delay, TRANSCRIPTION, Child, Genetics (clinical), ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells, Genetics, Neurons, SWI/SNF COMPLEX, MESH: Infant, Hypotonia, Neural stem cell, Chromatin, DNA-Binding Proteins, medicine.anatomical_structure, MESH: Young Adult, MESH: Epilepsy, Child, Preschool, Female, medicine.symptom, Adult, MESH: Mutation, DISORDERS, Induced Pluripotent Stem Cells, Biology, MESH: Induced Pluripotent Stem Cells, MESH: Actins, MESH: Dendrites, Chromatin remodeling, Article, MESH: Chromatin, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, MESH: Chromosomal Proteins, Non-Histone, medicine, Journal Article, Humans, CHROMATIN REMODELING COMPLEX, Progenitor cell, Loss function, MESH: Neurodevelopmental Disorders, MESH: Humans, Epilepsy, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], [SCCO.NEUR]Cognitive science/Neuroscience, MESH: Child, Preschool, COFFIN-SIRIS SYNDROME, MEMORY, Infant, MESH: Adult, Dendrites, GENE, MESH: Male, Actins, 030104 developmental biology, Neurodevelopmental Disorders, Mutation, OLIGODENDROCYTE, Neuron, MESH: Female, 030217 neurology & neurosurgery, MESH: DNA-Binding Proteins
وصف الملف: image/pdf; application/pdf
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المؤلفون: Susan A. Berry, Guntram Borck, Katherine L. Helbig, Johannes R. Lemke, Anju Shukla, Sha Tang, Martino Montomoli, Katta M. Girisha, Dagmar Huhle, Malavika Hebbar, Rami Abou Jamra, Renzo Guerrini, Fanny Kortüm, Kerstin Kutsche, Georg Christoph Korenke, Malik Alawi, Maja Steinlin, Sandra Waldmeier-Wilhelm
المصدر: European journal of human genetics : EJHG. 26(5)
مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Pontocerebellar hypoplasia, Postnatal microcephaly, Biology, Corpus callosum, Compound heterozygosity, Article, Frameshift mutation, AMP Deaminase, 03 medical and health sciences, Cerebellar Diseases, Pregnancy, Genetics, medicine, Humans, Global developmental delay, Child, Genetics (clinical), Cerebral Cortex, Paraplegia, Homozygote, Infant, medicine.disease, Hypoplasia, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, Female
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المؤلفون: Birgit Zirn, Wolfram Heinritz, Keri Ramsey, Milka Pringsheim, Angelika Rieß, Dörthe Malzahn, Marc Kaulisch, Hans Martin Büttel, Katherine L. Helbig, Johannes R. Lemke, Luis Rohena, Martina Baethmann, G. Christoph Korenke, Frank Martin Zech, Marion Heruth, Isabelle Prehl, Konstanze Hoertnagel, Kim Sarah Plümacher, Knut Brockmann, Carolina Courage, Gerhard Kluger, Stephanie Karch, Karen Höft, Diana Mitter, Barbara Zoll, Julie S. Cohen, Angelika Eger, Rami Abou Jamra, Steffi Patzer, Theresa A. Grebe, Simone Schröder, Ali Fatemi, Dagmar Huhle, Richard E. Lutz, Tina Rating, Elizabeth Conover, Mareike Schimmel, Thomas Bast, Rita Warthemann, Rachel Westman, Natalie Hauser
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 20(1)
مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Genetic counseling, Protein domain, DNA Mutational Analysis, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Forkhead Transcription Factors, Genetic variation, Rett Syndrome, Missense mutation, Humans, Child, Genetics (clinical), Genetic Association Studies, Genetics, Genetic Variation, Magnetic Resonance Imaging, 3. Good health, FOXG1, 030104 developmental biology, Phenotype, Child, Preschool, Female, 030217 neurology & neurosurgery
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المؤلفون: Dagmar Huhle, Wouter Simoens, Ilona Dietze, Helga Rehder, Barbara Fritz, Ernestine Piecha
المصدر: Fetal Diagnosis and Therapy. 19:251-260
مصطلحات موضوعية: Embryology, medicine.medical_specialty, Pathology, Fetus, medicine.diagnostic_test, business.industry, Cytogenetics, Obstetrics and Gynecology, Karyotype, General Medicine, medicine.disease, Chromosome 4, Pediatrics, Perinatology and Child Health, Micrognathism, medicine, Amniocentesis, Severe intrauterine growth retardation, Radiology, Nuclear Medicine and imaging, business, Wolf–Hirschhorn syndrome
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المؤلفون: Monika Ziegler, Hanne Tittelbach, Elisabeth Klein, Nadezda Kosyakova, Florian Kubek, Annelore Junge, Thomas Liehr, Laura Rodríguez, Fedora Stipoljev, Marcelo de Bello Cioffi, Marianne Volleth, Peter Kozlowski, Faezeh Vasheghani, Hannes Spittel, Gopakumar Radhakrishnan, Karl Mehnert, Xiaobo Fan, Ahmed B. Hamid, Dagmar Huhle, Thomas Martin, Mehmet Ali Ergun, Catherine Sarri, Berndt Schulze, Mariela Militaru, Katharina Kreskowski, Shaymaa S. Hussein
مصطلحات موضوعية: Adult, Genetic Markers, Male, Adolescent, Mitosis, Chromosome Disorders, Biology, Cell Line, Young Adult, Dicentric chromosome, Chromosomal Instability, Chromosome instability, Genetics, Humans, Child, Molecular Biology, Small supernumerary marker chromosome, In Situ Hybridization, Fluorescence, Genetics (clinical), Mosaicism, Infant, Newborn, Infant, Karyotype, Molecular biology, Chromosome Banding, Genetic marker, Child, Preschool, Karyotyping, Female, cell bank, cell lines, Epstein-Barr virus immortalization, marker chromosome shape, puberty, small supernumerary marker chromosome, Cell bank, Immortalised cell line
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المؤلفون: Kossakiewicz M, Höls-Herpertz I, Götz J, Hanne Tittelbach, Köhler S, Anja Weise, M.-L. Mazauric, Rolf-Dieter Wegner, Susann Neubauer, Iris Bartels, Britta Belitz, Isolde Schreyer, Ute Hehr, Niemann R, Peter Küpferling, Thomas Liehr, Dagmar Huhle, A Polityko, Süss F, Kristin Mrasek, Marina Manvelyan, Markus Stumm, Kunze H
المصدر: International journal of molecular medicine. 19(6)
مصطلحات موضوعية: Infertility, Male, medicine.medical_specialty, Robertsonian translocation, Chromosomal translocation, Biology, medicine.disease_cause, Translocation, Genetic, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Segmental duplication, Chromosomal inversion, Chromosomal fragile site, Breakpoint, Cytogenetics, Chromosome Breakage, General Medicine, medicine.disease, Chromosome Banding, Karyotyping, Cytogenetic Analysis, Female
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المؤلفون: Ilona, Dietze, Barbara, Fritz, Dagmar, Huhle, Wouter, Simoens, Ernestine, Piecha, Helga, Rehder
المصدر: Fetal diagnosis and therapy. 19(3)
مصطلحات موضوعية: Adult, Fetal Growth Retardation, Micrognathism, Syndrome, Ultrasonography, Prenatal, Clubfoot, Fathers, Fetus, Pregnancy, Face, Karyotyping, Cytogenetic Analysis, Humans, Abnormalities, Multiple, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, In Situ Hybridization, Fluorescence
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المؤلفون: Hanne Tittelbach, M. Miyachi, P.A. Lima-Filho, V. Genualdo, W. Rens, Gopakumar Radhakrishnan, C. Nishida, M.B. Cioffi, W.F. Molina, Alfredo Pauciullo, Alessandra Iannuzzi, Berndt Schulze, H. Hosoi, Karl Mehnert, Ahmed B. Hamid, Clara Iannuzzi, Darren K. Griffin, V. Zukin, Nadezda Kosyakova, M. Röser, Fedora Stipoljev, Shaymaa S. Hussein, H. Yamane, Marcelo de Bello Cioffi, Dagmar Huhle, Monika Ziegler, L. Kratochvíl, D. Mykytenko, Hannes Spittel, K. Shiwaku, Peter Kozlowski, Y. Matsuda, Katharina Kreskowski, Satz Mengensatzproduktion, J. Schneider, Annelore Junge, Faezeh Vasheghani, L. Spinenko, Thomas Martin, Xiaobo Fan, Petra Musilova, M. Rovatsos, Domenico Incarnato, L.A.C. Bertollo, Angela Perucatti, S. Ishishita, L. Pylyp, G. Winterfeld, Jiri Rubes, N. Kakazu, K. Yamada, Laura Rodríguez, Catherine Sarri, Mehmet Ali Ergun, K. Perner, Thomas Liehr, Mariela Militaru, G.W.W.F. Costa, M. Pokorná, Florian Kubek, Druckerei Stückle, Marianne Volleth, Elisabeth Klein
المصدر: Cytogenetic and Genome Research. 142:226-226
مصطلحات موضوعية: medicine.medical_specialty, Genetics, Cytogenetics, medicine, Biology, Molecular Biology, Archaeology, Genetics (clinical)
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