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1دورية أكاديمية
المؤلفون: Kirsten König, Astrid Pechmann, Simone Thiele, Maggie C. Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible, Janbernd Kirschner
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
مصطلحات موضوعية: Incidence, Neuromuscular disease, Spinal muscular atrophy, Duchenne muscular dystrophy, Medicine
وصف الملف: electronic resource
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2
المؤلفون: Natalie Pluta, Konstantin Kolokotronis, Gerhard Meng, Clemens Müller-Reible, Simone Rost, Wolfram Kress
المصدر: Neuropediatrics. 48:242-246
مصطلحات موضوعية: 0301 basic medicine, Adolescent, Genetic counseling, Genetic Counseling, Computational biology, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Gene panel, Humans, Medicine, Clinical significance, Child, Likely pathogenic, Sequence (medicine), Genetics, Incidental Findings, Massive parallel sequencing, business.industry, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, General Medicine, Phenotype, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5581c73c374aa816a6d369d042ea2072
https://doi.org/10.1055/s-0037-1602660 -
3
المؤلفون: Andreas Reif, Josep Antoni Ramos-Quiroga, Thomas Haaf, Klaus-Peter Lesch, Reinhard Ullmann, Charline Jansch, Annette Conzelmann, Marta Ribasés, Clemens Müller-Reible, Paul Pauli, Tatyana Strekalova, Heike Weber, Barbara Franke, Jan Haavik, Stefan Johansson, S. Merker, Georg C. Ziegler, Marcel Romanos, Ann-Christine Ehlis, Ute Mayer, Alejandro Arias Vasquez, Jan K. Buitelaar, Indrajit Nanda, Andreas J. Fallgatter
المساهمون: RS: MHeNs - R3 - Neuroscience, Psychiatrie & Neuropsychologie
المصدر: Journal of Child Psychology and Psychiatry and Allied Disciplines, 58, 7, pp. 798-809
Journal of Child Psychology and Psychiatry and Allied Disciplines, 58, 798-809
Journal of Child Psychology and Psychiatry
Journal of Child Psychology and Psychiatry, 58(7), 798-809. Wileyمصطلحات موضوعية: 0301 basic medicine, NEUROTRANSMITTER HOMEOSTASIS, Genome-wide association study, Executive Function, 0302 clinical medicine, Neurodevelopmental disorder, Gene Duplication, Germany, single-nucleotide polymorphisms, Developmental and Educational Psychology, Copy-number variation, BRAIN, Child, Genetics, Glucose Transporter Type 3, Norway, IGF-I, Psychiatry and Mental health, duplication, SUSCEPTIBILITY GENE, RARE VARIANTS, Psychology, BEHAVIOR, Adult, Risk, Adolescent, DNA Copy Number Variations, SLC2A3, DEFICIT HYPERACTIVITY DISORDER, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, frontostriatal network, Young Adult, 03 medical and health sciences, WORKING-MEMORY, mental disorders, medicine, Humans, Attention deficit hyperactivity disorder, SNP, GENOME-WIDE ASSOCIATION, energy homeostasis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Working memory, glucose transporter, GLUCOSE-TRANSPORTER EXPRESSION, medicine.disease, 030104 developmental biology, Attention-deficit/hyperactivity disorder, Attention Deficit Disorder with Hyperactivity, Spain, Case-Control Studies, Pediatrics, Perinatology and Child Health, Neurocognitive, 030217 neurology & neurosurgery, Genome-Wide Association Study, copy number variants
وصف الملف: application/pdf
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4
المؤلفون: Marius Kuhn, Sebastian H. Eck, Hanns-Georg Klein, Sebastian Vosberg, Klaus H. Metzeler, Saskia Biskup, Clemens Müller-Reible, Anna Benet-Pagès, Philipp A. Greif, Ina Vogl
المصدر: LaboratoriumsMedizin. 37:305-315
مصطلحات موضوعية: Medical Laboratory Technology, Workflow, Software, business.industry, Biochemistry (medical), Clinical Biochemistry, Biology, business, Enrichment methods, Data science, Target enrichment, DNA sequencing, Biotechnology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::342804ea673315d95a7432fa5dab5261
https://doi.org/10.1515/labmed-2013-0016 -
5
المؤلفون: Clemens Müller-Reible, Ute Hehr, Gabriele Wildhardt, Dieter Gläser, Hanns-Georg Klein, Ulrich Finckh, Hanno Joern Bolz, Peter Bauer
المصدر: OBM Genetics. 2:1-1
مصطلحات موضوعية: German, Computer science, language, Diagnostic test, High throughput technology, Guideline, DNA sequencing, language.human_language, Reliability engineering
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::874f1f078e7704d7c678178a6b1e7e48
https://doi.org/10.21926/obm.genet.1802019 -
6
المؤلفون: Tiemo Grimm, Wolfram Kress, Clemens Müller-Reible, Gerhard Meng
المصدر: Medizinische Genetik. 21:327-331
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, Genetic model, Genetics, medicine, Germline mosaicism, medicine.disease, business, Dystrophin gene, Genetics (clinical)
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7
المصدر: Medizinische Genetik. 20:230-235
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Genetics, Medicine, business, Genetics (clinical)
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8
المصدر: Medizinische Genetik. 20:190-196
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Genetics, Medicine, business, Genetics (clinical)
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9
المؤلفون: Clemens Müller-Reible, Johannes Oldenburg, Andreas Fregin, Christof Geisen, Matthias Watzka, Carville G. Bevans
المصدر: Thrombosis and Haemostasis. 98:570-578
مصطلحات موضوعية: Vitamin K, Genotype, Protein Conformation, Drug Resistance, Administration, Oral, Hemorrhage, Pharmacology, Biology, Polymorphism, Single Nucleotide, Risk Assessment, Mixed Function Oxygenases, Phenprocoumon, Pharmacotherapy, Gene Frequency, Coumarins, Risk Factors, Vitamin K Epoxide Reductases, Antifibrinolytic agent, medicine, Humans, Genetic Predisposition to Disease, heterocyclic compounds, Cytochrome P-450 CYP2C9, Acenocoumarol, Dose-Response Relationship, Drug, Warfarin, Anticoagulants, Hematology, Antifibrinolytic Agents, Phenotype, Haplotypes, Pharmacogenetics, Mutation, Drug Therapy, Combination, Vitamin K epoxide reductase, Aryl Hydrocarbon Hydroxylases, VKORC1, Algorithms, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::819f298b028041d9144cedda1f22c3d7
https://doi.org/10.1160/th07-07-0454 -
10
المؤلفون: Wolfram Kress, Angela Abicht, M. von der Hagen, Maggie C. Walter, Christoph Hübner, Matthias Vorgerd, Angela Huebner, Rudolf Korinthenberg, K Koehler, Juliane Müller, Ulrike Grieben, A. von Moers, Hanns Lochmüller, Jens Schallner, Clemens Müller-Reible, Angela M. Kaindl, P. Mitzscherling, U. Schara
المصدر: Neuromuscular Disorders. 16:4-13
مصطلحات موضوعية: Candidate gene, Genotype, DNA Mutational Analysis, Muscle Proteins, Biology, Diagnosis, Differential, Genetic Heterogeneity, Genetic linkage, Databases, Genetic, medicine, Humans, Genotyping, Genetics (clinical), Family Health, Genetics, Genetic heterogeneity, Neuromuscular Diseases, Congenital myasthenic syndrome, medicine.disease, Congenital myopathy, Molecular Diagnostic Techniques, Neurology, Genetic marker, Pediatrics, Perinatology and Child Health, Neurology (clinical)