Barbara Gnidovec Strazisar

Barbara Gnidovec Strazisar

UNVERIFIED PROFILE

Are you Barbara Gnidovec Strazisar?   Register this Author

Register author
Barbara Gnidovec Strazisar

Barbara Gnidovec Strazisar

Publications by authors named "Barbara Gnidovec Strazisar"

Are you Barbara Gnidovec Strazisar?   Register this Author

6Publications

258Reads

30Profile Views

Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping.

J Appl Genet 2018 May 21;59(2):179-185. Epub 2018 Mar 21.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slajmerjeva 4, 1000, Ljubljana, Slovenia.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s13353-018-0440-y
Publisher Site
http://dx.doi.org/10.1007/s13353-018-0440-yDOI Listing
May 2018

Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.

Eur J Paediatr Neurol 2015 Mar 20;19(2):251-6. Epub 2014 Dec 20.

Institute of Medical Genetics, University Medical Centre, Ljubljana, Slovenia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.12.011DOI Listing
March 2015

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Neurology 2013 Sep 9;81(11):992-8. Epub 2013 Aug 9.

From the Department of Human Genetics (K. Nakamura, K. Nishiyama, H.K., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.), Yokohama City University Graduate School of Medicine, Yokohama; Department of Pediatrics (K. Nakamura, M.K., K. Hayasaka), Yamagata University Faculty of Medicine, Yamagata; Division of Neurology (H.O., S.Y., M. Okuda, T.W.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Child Neurology (E.N.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatric Neurology (K. Haginoya), Takuto Rehabilitation Center for Children, Sendai; Department of Pediatrics (J.T.), Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata; Department of Pediatrics (S.S.), Osaka Medical College Hospital, Osaka; National Epilepsy Center (K.I.), Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka; Department of Pediatrics (S.T.), Yokohama City University Medical Center, Yokohama; Department of Pediatrics (H.I.), Tokyo Metropolitan Bokuto Hospital, Tokyo, Japan; Metabolic Neurogenetic Clinic (D.L., T.L.-S.), Wolfson Medical Center, Holon, Israel; Department of Human Genetics (D.E.C.-B., C.E.V.), National Institute of Pediatrics, Mexico City, Mexico; Division of Child Neurology (M. Ohfu), Okinawa Nanbu Medical Center and Children's Medical Center, Okinawa, Japan; Institute of Medical Genetics (K.W.), University Medical Center Ljubljana; Department of Child, Adolescent and Developmental Neurology (B.G.S.), University Children's Hospital, Ljubljana, Slovenia; Department of Neurology (S.H.), Nagano Children's Hospital, Nagano, Japan; Department of Obstetrics and Gynecology (D.C.), The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto; and Division of Clinical and Metabolic Genetics (D.C., D.M.R.), The Hospital for Sick Children, University of Toronto, Canada.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/early/2013/08/09/WNL.0b013e
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e3182a43e5
Publisher Site
http://dx.doi.org/10.1212/WNL.0b013e3182a43e57DOI Listing
September 2013

Menkes kinky hair disease (Menkes syndrome). A case report.

Acta Dermatovenerol Alp Pannonica Adriat 2006 Sep;15(3):126-30

University Children's Hospital, University Medical Centre Ljubljana, Vrazov trg 1, 1525 Ljubljana.

View Article

Download full-text PDF

Source
September 2006