Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
about
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.Genetic contribution of retinoid-related genes to neural tube defects.Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes.Sending mixed signals: Cilia-dependent signaling during development and disease.
P2860
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
@en
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
@nl
type
label
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
@en
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
@nl
prefLabel
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
@en
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
@nl
P2093
P2860
P50
P1154
2-s2.0-85019988128
P1476
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
@en
P2093
Albert David
Alice Goldenberg
André Mégarbané
Ange-Line Bruel
Anne Dieux
Anne Fargeot-Espaliat
Bernard Aral
Bruno Reversade
Bérénice Doray
Christel Thauvin-Robinet
P2860
P304
P356
10.1136/JMEDGENET-2016-104436
P407
P50
P5530
P577
2017-03-13T00:00:00Z
P6179
1084225600