Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
about
Behavioral phenotypes of genetic mouse models of autism.Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient ratZinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.Epilepsy and Autism.Autism Spectrum Disorders and Schizophrenia Spectrum Disorders: Excitation/Inhibition Imbalance and Developmental Trajectories.Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy.A framework to identify contributing genes in patients with Phelan-McDermid syndrome.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.Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome.Disrupted circuits in mouse models of autism spectrum disorder and intellectual disability.Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion 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.Prospects of Zinc Supplementation in Autism Spectrum Disorders and Shankopathies Such as Phelan McDermid Syndrome.
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P2860
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
description
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2014 թուականին հրատարակուած գիտական յօդուած
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2014 թվականին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Phelan-McDermid syndrome: a re ...... ical assessment and monitoring
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Phelan-McDermid syndrome: a re ...... ical assessment and monitoring
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Phelan-McDermid syndrome: a re ...... ical assessment and monitoring
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type
label
Phelan-McDermid syndrome: a re ...... ical assessment and monitoring
@ast
Phelan-McDermid syndrome: a re ...... ical assessment and monitoring
@en
Phelan-McDermid syndrome: a re ...... ical assessment and monitoring
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prefLabel
Phelan-McDermid syndrome: a re ...... ical assessment and monitoring
@ast
Phelan-McDermid syndrome: a re ...... ical assessment and monitoring
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Phelan-McDermid syndrome: a re ...... ical assessment and monitoring
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Phelan-McDermid syndrome: a re ...... ical assessment and monitoring
@en
P2093
A Ting Wang
Alexander Kolevzon
Benjamin Angarita
Cristina Farrell
Jeffrey Saland
Lauren Bush
Lisa J Edelmann
Robert Rapaport
Shubhika Srivastava
Yitzchak Frank
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10.1186/1866-1955-6-39
P407
P577
2014-01-01T00:00:00Z
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P6179
1038194134