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Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
Lozano, Reymundo; Herman, Kristin; Rothfuss, Melanie; Rieger, Hillary; Bayrak-Toydemir, Pinar; Aprile, Davide; Fruscione, Floriana; Zara, Federico; Fassio, Anna.
Affiliation
  • Lozano R; Departments of Genetic and Genomic Sciences, Psychiatry, and Pediatrics, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Herman K; Department of Pediatrics, UC Davis Medical Center, Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, Sacramento, California.
  • Rothfuss M; Department of Pediatrics, UC Davis Medical Center, Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, Sacramento, California.
  • Rieger H; Departments of Genetic and Genomic Sciences, Psychiatry, and Pediatrics, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Bayrak-Toydemir P; Department of Pathology, University of Utah, Salt Lake City, Utah.
  • Aprile D; Department of Experimental Medicine, University of Genova, Genova, Italy.
  • Fruscione F; Laboratory of Neurogenetics and Neuroscience, G. Gaslini Institute, Genova, Italy.
  • Zara F; Laboratory of Neurogenetics and Neuroscience, G. Gaslini Institute, Genova, Italy.
  • Fassio A; Department of Experimental Medicine, University of Genova, Genova, Italy.
Am J Med Genet A ; 170(12): 3207-3214, 2016 12.
Article in En | MEDLINE | ID: mdl-27541164
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hand Deformities, Congenital / Carrier Proteins / Craniofacial Abnormalities / Epilepsy / Hearing Loss, Sensorineural / Intellectual Disability / Nails, Malformed Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hand Deformities, Congenital / Carrier Proteins / Craniofacial Abnormalities / Epilepsy / Hearing Loss, Sensorineural / Intellectual Disability / Nails, Malformed Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Country of publication: Estados Unidos