Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children. - Wikidata - wikimedia - TriplyDB

Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.

Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.

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Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial Autism, epilepsy, and synaptopathies: a not rare association.Generation and Characterization of SULT4A1 Mutant Mouse Models.Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder.Shank3-deficient rats exhibit degraded cortical responses to sound.Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome.Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

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Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.

http://www.wikidata.org/entity/Q36836952

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Developmental phenotype in Phe ...... spective study in 34 children.

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Developmental phenotype in Phe ...... spective study in 34 children.

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Boudien C T Flapper

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Conny M A Van Ravenswaaij-Arts

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Edwin R van den Heuvel

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Renée J Zwanenburg

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Selma A J Ruiter

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P2860

Systematic review of cognitive development across childhood in Down syndrome: implications for treatment interventions

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

Discovery, structure-activity relationship studies, and crystal structure of nonpeptide inhibitors bound to the Shank3 PDZ domain

22q13 deletion syndrome

ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

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