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Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndromeA patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 regionClinical and genomic evaluation of 201 patients with Phelan-McDermid syndromePhelan-McDermid Syndrome and SHANK3: Implications for Treatment.Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Growth in Phelan-McDermid syndrome
@ast
Growth in Phelan-McDermid syndrome
@en
Growth in Phelan-McDermid syndrome
@nl
type
label
Growth in Phelan-McDermid syndrome
@ast
Growth in Phelan-McDermid syndrome
@en
Growth in Phelan-McDermid syndrome
@nl
prefLabel
Growth in Phelan-McDermid syndrome
@ast
Growth in Phelan-McDermid syndrome
@en
Growth in Phelan-McDermid syndrome
@nl
P2093
P2860
P356
P1476
Growth in Phelan-McDermid syndrome
@en
P2093
Barbara R DuPont
Jonathan D Rollins
Julianne S Collins
Katy Phelan
R Curtis Rogers
Sara M Sarasua
P2860
P304
P356
10.1002/AJMG.A.34158
P407
P577
2011-09-01T00:00:00Z