المؤلفون: C. du Souich, M.M. Nezarati, L. Dupuis, K.R. Clapham, C. van Karnebeek, Timothy W. Yu, Vijay S. Ganesh, Davide Mei, Renzo Guerrini, Elena Parrini, Christopher A. Walsh, Y. Chan, Brenda J. Barry, B. Funalot

المساهمون: Other departments

المصدر: Neurology, 78(4), 269-278. Lippincott Williams and Wilkins

مصطلحات موضوعية: Adult, DNA Copy Number Variations, Filamins, Drug Resistance, Locus (genetics), Biology, Real-Time Polymerase Chain Reaction, Polymerase Chain Reaction, Exon, Chromosome Breakpoints, Contractile Proteins, Periventricular Nodular Heterotopia, Pregnancy, Seizures, FLNA, Humans, Point Mutation, Copy-number variation, Genetics, Gene Rearrangement, Point mutation, Breakpoint, Microfilament Proteins, Infant, Newborn, Infant, Nucleic Acid Hybridization, Low copy repeats, Articles, DNA, Exons, Middle Aged, Microarray Analysis, Molecular biology, Pedigree, Anticonvulsants, Female, Neurology (clinical), Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50c433df0e3faf455878b3da7debb0fTest
https://europepmc.org/articles/PMC3280053Test/

المؤلفون: Vijay S. Ganesh, Meral Topçu, Christopher A. Walsh, Samuel F. Berkovic, Yin Yao Shugart, Timothy J. Cherry, Volney L. Sheen, Robert Sean Hill, Adria Bodell, D. Yalnizoglu, Ilan Blatt

المصدر: Neurology. 60(7)

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Yemen, Turkey, Genetic Linkage, Developmental Disabilities, Filamins, Pedigree chart, Genes, Recessive, Consanguinity, Biology, Choristoma, Filamin, Cerebral Ventricles, Contractile Proteins, Genetic linkage, Cell Movement, Seizures, Homologous chromosome, medicine, FLNA, Humans, FLNB, Gene, Aged, Genetics, Brain Diseases, Chromosomes, Human, X, Microfilament Proteins, Infant, Electroencephalography, Middle Aged, Magnetic Resonance Imaging, Pedigree, Child, Preschool, Female, Neurology (clinical), Chromosomes, Human, Pair 3, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20a600cd72be9c59e2306edff94cb0c7Test
https://pubmed.ncbi.nlm.nih.gov/12682315Test

المؤلفون: Rachel Straussberg, Yin Yao Shugart, Vijay S. Ganesh, Lina Basel-Vanagaite, Robert Ravenscroft, Jean R. Goodman, Christopher A. Walsh, Volney L. Sheen, Ingrid E. Scheffer, James Barkovich, Adria Bodell, Robert Sean Hill, Timothy J. Cherry

المصدر: Braindevelopment. 26(5)

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Genetic Linkage, Filamins, Blotting, Western, Locus (genetics), Biology, Choristoma, Filamin, Ventriculoperitoneal Shunt, Lateral ventricles, Contractile Proteins, Epilepsy, Complex Partial, Developmental Neuroscience, Pregnancy, medicine, FLNA, Humans, Child, Gene, In Situ Hybridization, Fluorescence, Genetics, Reverse Transcriptase Polymerase Chain Reaction, Valproic Acid, Microfilament Proteins, Brain, Genetic Diseases, X-Linked, General Medicine, medicine.disease, Magnetic Resonance Imaging, Hydrocephalus, Xq28, Pedigree, Neuronal migration disorder, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Anticonvulsants, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c85efc20c0f4d7db966f820e591eaeTest
https://pubmed.ncbi.nlm.nih.gov/15165674Test

المؤلفون: J. Menasha, James Barkovich, Robert Sean Hill, Pierre Thomas, G. M. Hutchins, R. R. Vaid, Stephen P. Robertson, Y. Geng, Linda Nicholson, Karen W. Gripp, François Dubeau, Anna Jansen, Timothy R. Morgan, Vijay S. Ganesh, D. E. Ruiz, Kira Apse, F. Andermann, R. Ravenscroft, Christopher A. Walsh, Maurizio Viri, Yin Yao Shugart, James S. Wiley, T. Underwood, Elizabeth Berry-Kravis, Ming-Hui Chen, Pierangelo Veggiotti, Richard J. Leventer, Eva Andermann, Judith P. Willner, Renzo Guerrini, Volney L. Sheen, Adria Bodell, Elena Parrini

المساهمون: Public Health Care

المصدر: ResearcherID
Vrije Universiteit Brussel
Scopus-Elsevier

مصطلحات موضوعية: Adult, Male, Adolescent, Filamins, DNA Mutational Analysis, Mutation, Missense, periventricular heterotopia, Biology, Filamin, neuronal migration disorders, Contractile Proteins, medicine, Humans, Point Mutation, FLNA, Missense mutation, genetics, Child, Polymorphism, Single-Stranded Conformational, Sequence Deletion, Genetics, Chromosomes, Human, X, Epilepsy, Point mutation, Microfilament Proteins, Brain, Infant, Single-strand conformation polymorphism, Exons, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Pedigree, Xq28, Phenotype, Heterotopia (medicine), Amino Acid Substitution, Ehlers–Danlos syndrome, Female, Neurology (clinical), Ehlers-Danlos syndrome, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b9d17cd70269ab5f2b754997cbf342Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000226507200015&KeyUID=WOS:000226507200015Test