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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

• Authors : Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja ...

Subjects: autism; cupped ears; epilepsy

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POU3F3-related disorder:Defining the phenotype and expanding the molecular spectrum

• Authors : Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja

Subjects: autism; cupped ears; epilepsy

• Source: Rossi , A , Blok , L S , Neuser , S , Klöckner , C , Platzer , K , Faivre , L O , Weigand , H , Dentici , M L , Tartaglia , M , Niceta , M , Alfieri , P , Srivastava ,

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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

• Authors : Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris ...

Subjects: PPP2R1A; PP2A; intellectual disability

• Source: ISSN: 1098-3600.

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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

• Authors : Srivastava, Siddharth; Macke, Erica; Swanson, Lindsay ...

Subjects: WASF1; autism; intellectual disability

• Source: ISSN: 2076-3425 ; Brain Sciences ; https://amu.hal.science/hal-03664847 ; Brain Sciences, 2021, 11 (7), pp.931. ⟨10.3390/brainsci11070931⟩.

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Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability

• Authors : Neuser, Sonja; Brechmann, Barbara; Heimer, Gali

Subjects: Human phenotype ontology; TECPR2; Neurodevelopmental disorder

• Source: Department of Paediatrics and Child Health

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The broad phenotypic spectrum of PPP2R1A -related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

• Authors : Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris

Subjects: PPP2R1A; PP2A; Intellectual disability

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