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المؤلفون: Grazia M.S. Mancini, Cacha M.P.C.D. Peeters-Scholte, Paul B. Augustijn, Dick Lindhout, Eva H. Brilstra, A I Kistemaker, M.J.A. van Kempen, H A Newman, Oebele F. Brouwer, Katherine L. Helbig, Rinze F. Neuteboom, Marjolein Kriek, Bobby P. C. Koeleman, Patrick Rump, Yvonne J. Vos, I M de Lange, K. Hodges, Nine V A M Knoers
المساهمون: Neurology, Clinical Genetics
المصدر: Neurogenetics, 18(3), 147-153. SPRINGER
neurogenetics, 18(3), 147-153
Neurogenetics
Neurogenetics, 18(3), 147. Springer Verlag
Neurogenetics, 18(3), 147-153. Springer-Verlagمصطلحات موضوعية: 0301 basic medicine, Male, DISORDER, Pediatrics, PCDH19, Intellectual disability, Disease, DE-NOVO, Epilepsy, 0302 clinical medicine, Genetics (clinical), Genetics, PCDH19-RELATED EPILEPSY, medicine.diagnostic_test, Mosaicism, Medical record, High-Throughput Nucleotide Sequencing, ENCEPHALOPATHY, Cadherins, Phenotype, PROTOCADHERIN 19 MUTATIONS, Female, Original Article, medicine.medical_specialty, Heterozygote, Encephalopathy, 03 medical and health sciences, Cellular and Molecular Neuroscience, Sex Factors, Seizures, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Genetic testing, SPECTRUM, business.industry, GENE-RELATED EPILEPSY, medicine.disease, FEMALE-LIMITED EPILEPSY, Human genetics, Protocadherins, 030104 developmental biology, Mutation, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION
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