about
Proteoglycans and neuronal migration in the cerebral cortex during development and diseaseFirst reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarrayPerinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.SGBS cells as a model of human adipocyte browning: A comprehensive comparative study with primary human white subcutaneous adipocytes.A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy.Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.Interactions of signaling proteins, growth factors and other proteins with heparan sulfate: mechanisms and mysteries.A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Simpson-Golabi-Behmel syndrome types I and II.
@ast
Simpson-Golabi-Behmel syndrome types I and II.
@en
Simpson-Golabi-Behmel syndrome types I and II.
@nl
type
label
Simpson-Golabi-Behmel syndrome types I and II.
@ast
Simpson-Golabi-Behmel syndrome types I and II.
@en
Simpson-Golabi-Behmel syndrome types I and II.
@nl
prefLabel
Simpson-Golabi-Behmel syndrome types I and II.
@ast
Simpson-Golabi-Behmel syndrome types I and II.
@en
Simpson-Golabi-Behmel syndrome types I and II.
@nl
P2093
P2860
P50
P921
P1476
Simpson-Golabi-Behmel syndrome types I and II
@en
P2093
Fernando Santos
Julián Nevado
Pablo Lapunzina
Sixto García-Miñaur
P2860
P2888
P356
10.1186/S13023-014-0138-0
P5008
P577
2014-09-20T00:00:00Z
P5875
P6179
1024183613