CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

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http://www.wikidata.org/entity/Q57078436
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceAutosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Systematic analysis of palatal transcriptome to identify cleft palate genes within TGFβ3-knockout mice alleles: RNA-Seq analysis of TGFβ3 Mice.Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Structural correlates of affinity in fetal versus adult endplate nicotinic receptorsTruncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndromeAsymmetric transmitter binding sites of fetal muscle acetylcholine receptors shape their synaptic responseNicotinic acetylcholine receptors in human genetic disease.When do myopia genes have their effect? Comparison of genetic risks between children and adults.How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia.Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases.Neuromotor synapses in Escobar syndrome.
P2860

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

Item
http://www.wikidata.org/entity/Q57078436
description
im Jahr 2012 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 January 2012
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 2011
@uk
name
CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes
@en
CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes
@nl
type
label
CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes
@en
CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes
@nl
prefLabel
CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes
@en
CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes
@en
P2093
P304
P31
P356
10.1136/JMEDGENET-2011-100378
P407
P433
P478
P50
P577
P698