المؤلفون: E. H. Brilstra

المصدر: Epilepsie ISBN: 9789036820578

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::455fc43e2975e1ad7f936de5e3dc5135
https://doi.org/10.1007/978-90-368-2058-5_4

المؤلفون: D. G. A. Kasteleijn Nolst Trenité, L. Volkers, E. Strengman, H. M. Schippers, W. Perquin, G. Jan de Haan, A. O. Gkountidi, R. van’t Slot, S. F. de Graaf, B. Jocic Jakubi, G. Capovilla, A. Covanis, PARISI, Pasquale, P. Veggiotti, BRINCIOTTI, Mario, G. Incorpora, M. Piccioli, L. Cantonetti, S. F. Berkovic, I. E. Scheffer, E. H. Brilstra, A. C. M. Sonsma, A. J. Bader, C. G. F. de Kovel, B. P. C. Koeleman

المساهمون: D. G. A., Kasteleijn Nolst Trenité, L., Volker, E., Strengman, H. M., Schipper, W., Perquin, G., Jan de Haan, A. O., Gkountidi, R., van’t Slot, S. F., de Graaf, B., Jocic Jakubi, G., Capovilla, A., Covani, Parisi, Pasquale, P., Veggiotti, Brinciotti, Mario, G., Incorpora, M., Piccioli, L., Cantonetti, S. F., Berkovic, I. E., Scheffer, E. H., Brilstra, A. C. M., Sonsma, A. J., Bader, C. G. F., de Kovel, B. P. C., Koeleman

مصطلحات موضوعية: epilepsy, SCNM1 mutation, orofacial myoclonu, PPR, photosensitivity

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/26076849; info:eu-repo/semantics/altIdentifier/wos/WOS:000357767800014; volume:29; firstpage:90; lastpage:96; numberofpages:7; journal:SEIZURE; http://hdl.handle.net/11573/780033; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930995127; http://www.seizure-journal.com/

الاتاحة: http://hdl.handle.net/11573/780033
https://doi.org/10.1016/j.seizure.2015.03.020
http://www.seizure-journal.com/

المؤلفون: E H Brilstra, Thomas Bourgeron, Martin Poot, J.J. van der Smagt

المصدر: Cytogenetic and Genome Research. 135:228-240

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, CNTNAP2, DNA Copy Number Variations, endocrine system diseases, Genes, Recessive, Genomics, Genome-wide association study, Biology, mental disorders, Genetics, Genetic Pleiotropy, Humans, Copy-number variation, Autistic Disorder, Allele, Molecular Biology, Genetics (clinical), Chromosome Aberrations, Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, Epilepsy, Epistasis, Genetic, Schizophrenia, Epistasis, Genome-Wide Association Study, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5195da42beb56e029813f69e2cac4070
https://doi.org/10.1159/000334064

المؤلفون: E. Parrini, A. Ramazzotti, W. B. Dobyns, D. Mei, F. Moro, P. Veggiotti, C. Marini, E. H. Brilstra, B. D. Bernardina, L. Goodwin, A. Bodell, M. C. Jones, M. Nangeroni, S. Palmeri, E. Said, J. W. Sander, Y. Takahashi, L. V. Maldergem, G. Leonardi, M. Wright, C. A. Walsh, R. Guerrini, STRIANO, PASQUALE

المساهمون: E., Parrini, A., Ramazzotti, W. B., Dobyn, D., Mei, F., Moro, P., Veggiotti, C., Marini, E. H., Brilstra, B. D., Bernardina, L., Goodwin, A., Bodell, M. C., Jone, M., Nangeroni, S., Palmeri, E., Said, J. W., Sander, Striano, Pasquale, Y., Takahashi, L. V., Maldergem, G., Leonardi, M., Wright, C. A., Walsh, R., Guerrini

مصطلحات موضوعية: Abnormalitie, Multiple, genetics, Adolescent, Adult, Brain, abnormalities, Child, Preschool, Contractile Protein, Ehlers-Danlos Syndrome, Female, Fragile X Syndrome, Genetic Disease, X-Linked, Genotype, Humans, Hydrocephalu, Limb Deformitie, Congenital, Magnetic Resonance Imaging, methods, Male, Microcephaly, Microfilament Protein, Middle Aged, Mutation, Pedigree, Phenotype

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/16684786; info:eu-repo/semantics/altIdentifier/wos/WOS:000238761200029; volume:129; firstpage:1892; lastpage:1906; numberofpages:14; journal:BRAIN; http://hdl.handle.net/11567/314985; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33745685474; http://dx.doi.org/10.1093/brain/awl125

الاتاحة: http://hdl.handle.net/11567/314985
https://doi.org/10.1093/brain/awl125

المؤلفون: A. C. C. van Oppen, Dick Lindhout, A.C. Gittenberger-de Groot, K. ten Berg, P. G. J. Nikkels, G. B. van der Voet, E. H. Brilstra

المصدر: Prenatal Diagnosis. 25:156-158

مصطلحات موضوعية: Adult, Heart Defects, Congenital, medicine.medical_specialty, Heart disease, Heart Ventricles, Migraine Disorders, Ultrasonography, Prenatal, Diagnosis, Differential, Pregnancy, Internal medicine, medicine, Humans, Genetics (clinical), Valproic Acid, Fetus, Epilepsy, business.industry, Obstetrics and Gynecology, Abortion, Induced, medicine.disease, Teratology, Surgery, Pregnancy Complications, Hypoplastic right ventricle, Pregnancy Trimester, Second, Circulatory system, Cardiology, Gestation, Anticonvulsants, Female, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acb784b8c7b4d20917417565b81e7fa1
https://doi.org/10.1002/pd.1098