المؤلفون: Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg

المصدر: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: SMARCA2, NCBRS, DNA methylation, Signature, Epigenomics, Chromatin remodeling, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12920-019-0555-y; https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/1e206ed1cc744139884353eb7cb8a537

المؤلفون: Katrien Jansen, Katja Ahlbory, Celina von Stülpnagel, Edda Haberlandt, Steffen Berweck, Alessandra Renieri, Stefan Schilling, Margherita Baldassarri, Benedikt Hofmeister, Peter Weber, Francesca Mari, Gerhard Kluger, Shan Tang, Cornelia Betzler

المصدر: Neuropediatrics. 52:109-122

مصطلحات موضوعية: Male, 0301 basic medicine, Topiramate, Pediatrics, medicine.medical_specialty, Adolescent, Foot Deformities, Congenital, Vagus Nerve Stimulation, AED, epilepsy, NCBRS, Nicolaides-Baraitser syndrome, SMARCA2, medicine.medical_treatment, Lamotrigine, Hypotrichosis, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Outcome Assessment, Health Care, medicine, Humans, Child, Retrospective Studies, Valproic Acid, business.industry, Facies, Infant, Electroencephalography, General Medicine, Carbamazepine, medicine.disease, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Anticonvulsants, Female, Phenobarbital, Neurology (clinical), Levetiracetam, Diet, Ketogenic, business, 030217 neurology & neurosurgery, Transcription Factors, medicine.drug, Ketogenic diet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d8eb2c08711177342110a27fa70da06
https://doi.org/10.1055/s-0041-1722878

المؤلفون: Pascolini G., Valiante M., Bottillo I., Laino L., Fleischer N., Ferraris A., Grammatico P.

المساهمون: Pascolini, G., Valiante, M., Bottillo, I., Laino, L., Fleischer, N., Ferraris, A., Grammatico, P.

مصطلحات موضوعية: 6q25.3 microdeletion, ARID1B gene, Coffin-Siris syndrome (CSS), Intellectual disability (ID), Nicolaides-Baraitser syndrome (NCBRS)

Relation: info:eu-repo/semantics/altIdentifier/pmid/31421289; info:eu-repo/semantics/altIdentifier/wos/WOS:000516852000023; volume:63; issue:3; numberofpages:9; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11573/1443327; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072543111

الاتاحة: http://hdl.handle.net/11573/1443327
https://doi.org/10.1016/j.ejmg.2019.103739

المؤلفون: Dixon, Jennifer Mark

المصدر: Theses and Dissertations

مصطلحات موضوعية: sedation, temperament, EAS Temperament Survey for Children, NCBRS, Dentistry, Medicine and Health Sciences, Pediatric Dentistry and Pedodontics

وصف الملف: application/pdf

Relation: https://scholarscompass.vcu.edu/etd/654; https://scholarscompass.vcu.edu/context/etd/article/1653/viewcontent/dixonjm_thesis.pdf

الاتاحة: https://scholarscompass.vcu.edu/etd/654
https://doi.org/10.25772/C2NZ-9B05
https://scholarscompass.vcu.edu/context/etd/article/1653/viewcontent/dixonjm_thesis.pdf

المؤلفون: Dixon, Jennifer Mark

المصدر: Theses and Dissertations.

مصطلحات موضوعية: sedation, temperament, EAS Temperament Survey for Children, NCBRS, Dentistry, Medicine and Health Sciences, Pediatric Dentistry and Pedodontics

وصف الملف: application/pdf

الاتاحة: http://scholarscompass.vcu.edu/etd/654
http://scholarscompass.vcu.edu/cgi/viewcontent.cgi?article=1653&context=etd