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1دورية أكاديمية
المؤلفون: K. Eggermann, R. Meyer, M. Begemann, D. Dey, E. Bültmann, I. Kurth, G. C. Korenke, C. Knopp
المصدر: Genes, Vol 13, Iss 12, p 2356 (2022)
مصطلحات موضوعية: SAMD9L, CMT, HMSN, copy number neutral loss of heterozygosity, scatter plot, mosaicism, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: A. Iseke, Ulrich Heininger, A. Müller, H. Grundhewer, G. C. Korenke, Hans-Iko Huppertz, Markus Knuf, U. von Both
المصدر: Monatsschrift Kinderheilkunde. 169:1167-1170
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Surgery, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::de08d72b3596aa033adeb4783e22052bTest
https://doi.org/10.1007/s00112-021-01210-zTest -
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المؤلفون: M Ahmad-Anwar, Judith Fischer, S Gläser, Andreas Zimmer, J Grothaus, Steffen Hörer, G C Korenke, J Vornweg, Marion Kuhn, Hagen Ott
المصدر: British Journal of Dermatology. 184:1190-1192
مصطلحات موضوعية: Genetics, Ichthyosis, business.industry, Erythroderma, Dermatology, Neonatal onset, medicine.disease, Compound heterozygosity, Phenotype, Keratitis, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Failure to thrive, medicine, Missense mutation, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0866f5758e04909e414fd04bdbf17250Test
https://doi.org/10.1111/bjd.19815Test -
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المؤلفون: M. Baeck, M. Borchers, A. Schaper, G. C. Korenke, M. Ebbecke
المصدر: Monatsschrift Kinderheilkunde.
مصطلحات موضوعية: Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, 030225 pediatrics, Pediatrics, Perinatology and Child Health, medicine, Surgery, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::825810b78f6d8f78144f2bae3c602c3eTest
https://doi.org/10.1007/s00112-019-00818-6Test -
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المؤلفون: G. C. Korenke, Kerstin Kutsche, Martina Baethmann, Tatjana Bierhals, Martin Staudt, Laura López Marín
المصدر: European Journal of Medical Genetics. 61:329-334
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, media_common.quotation_subject, Nonsense, Mutation, Missense, Biology, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Humans, Missense mutation, Allele, Child, Agenesis of the corpus callosum, Genetics (clinical), Loss function, media_common, Movement Disorders, Sequence Analysis, DNA, General Medicine, DCC Receptor, Evoked Potentials, Motor, medicine.disease, Transcranial Magnetic Stimulation, Penetrance, Pedigree, Minor allele frequency, 030104 developmental biology, Child, Preschool, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1c5ce140efa293803a06783428b08dTest
https://doi.org/10.1016/j.ejmg.2018.01.010Test -
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المؤلفون: Matthias Begemann, Thorsten Hornemann, Michael Mull, Markus Bergmann, G C Korenke, Gergely Karsai, Miriam Elbracht, Joachim Weis, Florian Kraft, Natja Haag, Cordula Knopp, Ingo Kurth, J. M. Schröder
المصدر: Nervenheilkunde.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c63c25d4278c0d3baf13e26de329ba86Test
https://doi.org/10.1055/s-0039-1685066Test -
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المؤلفون: Matthias Begemann, Regula Steiner, Markus Bergmann, Gergely Karsai, Miriam Elbracht, Thorsten Hornemann, G C Korenke, Cordula Knopp, Florian Kraft, Saranya Suriyanarayanan, Michael Mull, Ingo Kurth, J. M. Schröder, Joachim Weis, Natja Haag, Hänisch B
مصطلحات موضوعية: 0303 health sciences, Metabolite, Cellular differentiation, Disease, Neurological disorder, Biology, medicine.disease, Sphingolipid, Cell biology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine.anatomical_structure, chemistry, Peripheral nervous system, medicine, CRISPR, lipids (amino acids, peptides, and proteins), 030217 neurology & neurosurgery, Function (biology), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59721144d8b90069af77727ec0f29f9dTest
https://doi.org/10.1101/347591Test -
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المؤلفون: Bader Alhaddad, Tobias B. Haack, G. C. Korenke, Holger Prokisch, H. Mayr, J-M. Nuoffer
المصدر: Neuropediatrics. 47
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, General Medicine, Paroxysmal dyskinesia, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Globus pallidus, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::54c5f86d47d2de105016afb90431dbf6Test
https://doi.org/10.1055/s-0036-1583605Test -
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المؤلفون: H. Losch, M. Viemann, G. C. Korenke, T. Kowald
المصدر: Neuropediatrics. 47
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, Moyamoya disease, business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::64fc0e2bbc10dad81b49486ce1aec409Test
https://doi.org/10.1055/s-0036-1583629Test -
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المؤلفون: V. Fingerle, M. Kinet, R. Klein, Peter Bartmann, Hans-Iko Huppertz, G. C. Korenke, H. J. Nentwich, Ulrich Heininger
المصدر: European Journal of Pediatrics
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Adolescent, Lymphocyte proliferation, Recommendations, Lyme Arthritis, Lyme disease, Diagnosis, medicine, Animals, Humans, Lyme Neuroborreliosis, Pediatrics, Perinatology, and Child Health, Borrelia burgdorferi, Child, Children, Lyme borreliosis, Antigens, Bacterial, Arthritis, Infectious, Lyme Disease, Ixodes, biology, Neuroborreliosis, business.industry, Lyme arthritis, biology.organism_classification, medicine.disease, Pediatrics, Perinatology and Child Health, Erythema chronicum migrans, Erythema Chronicum Migrans, Original Article, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d98efe988aded0b3112617fcd9479cTest
https://doi.org/10.1007/s00431-012-1779-4Test