Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Erschienen in
-
In: Journal of Medical Genetics 53.8 (2016): S. 511-522.
- Schlagwort
-
-
- Ereignis
-
Veröffentlichung
- (wo)
-
Erlangen
- (wer)
-
Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU)
- (wann)
-
2016
- Urheber
-
Mignot, Cyril
Stülpnagel, Celina von
Nava, Caroline
Ville, Dorothée
Sanlaville, Damien
Lesca, Gaetan
Rastetter, Agnès
Gachet, Benoit
Marie, Yannick
Korenke, G. Christoph
Borggraefe, Ingo
Hoffmann-Zacharska, Dorota
Szczepanik, Elżbieta
Rudzka-Dybała, Mariola
Yiş, Uluç
Çağlayan, Hande
Isapof, Arnaud
Marey, Isabelle
Panagiotakaki, Eleni
Korff, Christian
Rossier, Eva
Riess, Angelika
Beck-Woedl, Stefanie
Rauch, Anita
Zweier, Christiane
Hoyer, Juliane
Reis, André
Mironov, Mikhail
Bobylova, Maria
Mukhin, Konstantin
Hernandez-Hernandez, Laura
Maher, Bridget
Sisodiya, Sanjay
Kuhn, Marius
Glaeser, Dieter
Weckhuysen, Sarah
Myers, Candace T.
Mefford, Heather C.
Hörtnagel, Konstanze
Biskup, Saskia
Lemke, Johannes R.
Héron, Delphine
Kluger, Gerhard
Depienne, Christel
- URN
-
urn:nbn:de:bvb:29-opus4-96860
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
25.03.2025, 13:42 MEZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Mignot, Cyril
- Stülpnagel, Celina von
- Nava, Caroline
- Ville, Dorothée
- Sanlaville, Damien
- Lesca, Gaetan
- Rastetter, Agnès
- Gachet, Benoit
- Marie, Yannick
- Korenke, G. Christoph
- Borggraefe, Ingo
- Hoffmann-Zacharska, Dorota
- Szczepanik, Elżbieta
- Rudzka-Dybała, Mariola
- Yiş, Uluç
- Çağlayan, Hande
- Isapof, Arnaud
- Marey, Isabelle
- Panagiotakaki, Eleni
- Korff, Christian
- Rossier, Eva
- Riess, Angelika
- Beck-Woedl, Stefanie
- Rauch, Anita
- Zweier, Christiane
- Hoyer, Juliane
- Reis, André
- Mironov, Mikhail
- Bobylova, Maria
- Mukhin, Konstantin
- Hernandez-Hernandez, Laura
- Maher, Bridget
- Sisodiya, Sanjay
- Kuhn, Marius
- Glaeser, Dieter
- Weckhuysen, Sarah
- Myers, Candace T.
- Mefford, Heather C.
- Hörtnagel, Konstanze
- Biskup, Saskia
- Lemke, Johannes R.
- Héron, Delphine
- Kluger, Gerhard
- Depienne, Christel
- Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU)
Entstanden
- 2016
Ähnliche Objekte (12)
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Identification and characterization of genes underlying for intellectual disability and autism spectrum disorder
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Identification and characterization of mechanisms underlying intellectual disability
The genetic landscape of intellectual disability and epilepsy in adults and the elderly - a systematic genetic work-up to 150 individuals
Genetics of mental retardation : an overview encompassing learning disability and intellectual disability ; 12 tables
Meeting emotional needs in intellectual disability : the developmental approach
Syndromic intellectual disability : genotypes and phenotypes in six patients
Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder
Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila
The Life Expectancy of People with Intellectual Disability in Germany
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Identification and characterization of genes underlying for intellectual disability and autism spectrum disorder
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Identification and characterization of mechanisms underlying intellectual disability
The genetic landscape of intellectual disability and epilepsy in adults and the elderly - a systematic genetic work-up to 150 individuals
Genetics of mental retardation : an overview encompassing learning disability and intellectual disability ; 12 tables
Meeting emotional needs in intellectual disability : the developmental approach
Syndromic intellectual disability : genotypes and phenotypes in six patients
Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder
Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila
The Life Expectancy of People with Intellectual Disability in Germany
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Identification and characterization of genes underlying for intellectual disability and autism spectrum disorder
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Identification and characterization of mechanisms underlying intellectual disability
The genetic landscape of intellectual disability and epilepsy in adults and the elderly - a systematic genetic work-up to 150 individuals
Genetics of mental retardation : an overview encompassing learning disability and intellectual disability ; 12 tables
Meeting emotional needs in intellectual disability : the developmental approach
Syndromic intellectual disability : genotypes and phenotypes in six patients
Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder
Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila