نتائج البحث - "Matthias Pergande"

المساهمون: Center for Molecular Medicine [Cologne] (CMMC), University of Cologne, Department of Pediatrics and Adolescent Medicine, Experimental Neonatology, Faculty of Medicine, University of Cologne, Cologne Center for Genomics [Cologne] (CCG), University Hospital of Cologne [Cologne], Institute of Human Genetics [Cologne], Universitätsklinikum Köln (Uniklinik Köln)-University of Cologne, Justus-Liebig-Universität Gießen (JLU), Marmara University [Kadıköy - İstanbul], Eastern Mediterranean University (EMU), Mother and Child Health Care Institute of Serbia [Belgrade, Serbia] (MCHCI), Akdeniz University, Rheinische Friedrich-Wilhelms-Universität Bonn, Philipps University of Marburg, Department of Neurology, Justus-Liebig-University, University Children's Hospital of Heidelberg [Heidelberg, Germany], Institute of Human Genetics [Heidelberg, Germany], Universität Heidelberg [Heidelberg], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, University Medical Center of the Johannes Gutenberg-University Mainz, Hacettepe University Children's Hospital, Genetic Health Service New Zealand, Faculty of Medicine [Cologne], University Hospital of Cologne [Cologne]-University of Cologne, Pergande, Matthias, Motameny, Susanne, Oezdemir, Oezkan, Kreutzer, Mona, Wang, Haicui, Daimagueler, Huelya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Ozgur, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schaenzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Goknur, Topaloglu, Haluk, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.511-523. ⟨10.1038/s41436-019-0680-1⟩

مصطلحات موضوعية: Male, Candidate gene, Myopathy, VARIANTS, Fetal akinesia, MESH: Ryanodine Receptor Calcium Release Channel, 0302 clinical medicine, MESH: Child, Guanine Nucleotide Exchange Factors, MESH: Guanine Nucleotide Exchange Factors, Exome, Copy-number variation, Child, MESH: High-Throughput Nucleotide Sequencing, Genetics (clinical), Genetics, Arthrogryposis, 0303 health sciences, MESH: Infant, Newborn, MESH: Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, RNA-Binding Proteins, MESH: Infant, 3. Good health, Fetal Diseases, MESH: Fetal Diseases, MESH: Young Adult, Child, Preschool, ASAH1, Female, MESH: DNA Copy Number Variations, medicine.symptom, Adult, GENETICS, Adolescent, DNA Copy Number Variations, MESH: Trans-Activators, MESH: Arthrogryposis, Biology, ASPM, Young Adult, 03 medical and health sciences, Muscular Diseases, medicine, Humans, Genetic Predisposition to Disease, Gene, 030304 developmental biology, MESH: Adolescent, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, MESH: Humans, MUTATIONS, MESH: Child, Preschool, Infant, Newborn, MESH: Muscular Diseases, Infant, NEMALINE MYOPATHY, Ryanodine Receptor Calcium Release Channel, MESH: Adult, medicine.disease, Congenital myopathy, MESH: Male, MESH: RNA-Binding Proteins, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DISTAL ARTHROGRYPOSIS, Trans-Activators, MESH: Female, 030217 neurology & neurosurgery