European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
about
Guidelines for optimisation of a multiplex oligonucleotide ligation-PCR for characterisation of microbial pathogens in a microsphere suspension array.A multiplex oligonucleotide ligation-PCR as a complementary tool for subtyping of Salmonella TyphimuriumGenome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.Recent Advances in Imprinting Disorders.An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.Optimized MOL-PCR for Characterization of Microbial Pathogens.Pseudohypoparathyroidism - epidemiology, mortality and risk of complications.A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity.Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a mutation
P2860
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P2860
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
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2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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name
European guidance for the mole ...... ariants at GNAS: an EQA study.
@ast
European guidance for the mole ...... ariants at GNAS: an EQA study.
@en
type
label
European guidance for the mole ...... ariants at GNAS: an EQA study.
@ast
European guidance for the mole ...... ariants at GNAS: an EQA study.
@en
prefLabel
European guidance for the mole ...... ariants at GNAS: an EQA study.
@ast
European guidance for the mole ...... ariants at GNAS: an EQA study.
@en
P2093
P2860
P50
P356
P1476
European guidance for the mole ...... ariants at GNAS: an EQA study.
@en
P2093
Bettina Brix
Caroline Silve
EuroPHP Consortium
Intza Garin
Susanne Thiele
Virginie Grybek
P2860
P2888
P304
P356
10.1038/EJHG.2014.127
P50
P577
2014-07-09T00:00:00Z