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1 Ergebnisse
1
Gain‐of‐Function Mutations in RARB Cause Intellectual Disab..:
Srour, Myriam
;
Caron, Véronique
;
Pearson, Toni
...
qt9m80t7p5. , 2016
Link:
https://escholarship.org/uc/item/9m80t7p5
RT Journal T1
Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt9m80t7p5&Exemplar=1&LAN=DE A1 Srour, Myriam A1 Caron, Véronique A1 Pearson, Toni A1 Nielsen, Sarah B A1 Lévesque, Sébastien A1 Delrue, Marie-Ange A1 Becker, Troy A A1 Hamdan, Fadi F A1 Kibar, Zoha A1 Sattler, Shannon G A1 Schneider, Michael C A1 Bitoun, Pierre A1 Chassaing, Nicolas A1 Rosenfeld, Jill A A1 Xia, Fan A1 Desai, Sonal A1 Roeder, Elizabeth A1 Kimonis, Virginia A1 Schneider, Adele A1 Littlejohn, Rebecca Okashah A1 Douzgou, Sofia A1 Tremblay, André A1 Michaud, Jacques L PB eScholarship, University of California YR 2016 K1 Paediatrics K1 Biomedical and Clinical Sciences K1 Brain Disorders K1 Pediatric K1 Genetics K1 Intellectual and Developmental Disabilities (IDD) K1 2.1 Biological and endogenous factors K1 Aetiology K1 Neurological K1 Adolescent K1 Child K1 Preschool K1 Dystonic Disorders K1 Female K1 Gain of Function Mutation K1 Humans K1 Infant K1 Newborn K1 Intellectual Disability K1 Male K1 Models K1 Molecular K1 Movement Disorders K1 Mutation K1 Missense K1 Protein Conformation K1 Receptors K1 Retinoic Acid K1 Transcriptional Activation K1 RARB K1 gain-of-function K1 movement disorder K1 developmental delay K1 Clinical Sciences K1 Genetics & Heredity JF qt9m80t7p5 LK http://dx.doi.org/https://escholarship.org/uc/item/9m80t7p5 DO https://escholarship.org/uc/item/9m80t7p5 SF ELIB - SuUB Bremen
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