about
Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.Maternal obesity caused by overnutrition exposure leads to reversal learning deficits and striatal disturbance in rats.De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.Genome-wide detection of natural selection in African Americans pre- and post-admixture.Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarrayExonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusA novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.22q11.2 Microduplication in a patient with 19p13.12-13.13 deletion.Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.Protective effects of insulin on polychlorinated biphenyls-induced disruption of actin cytoskeleton in hippocampal neurons.Age- and gender-dependent obesity in individuals with 16p11.2 deletion.Polychlorinated biphenyls disrupt the actin cytoskeleton in hippocampal neurons.A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome.Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.[Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].[Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening].Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.[Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].Meta-Analysis of the Association between Vitamin D Receptor Polymorphisms and the Risk of Autoimmune Thyroid Disease.Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndromeA novel JAG1 mutation in a patient with Alagille's syndromeExonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disabilityClinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutationsEvaluation of basal sex hormone levels for activation of the hypothalamic-pituitary-gonadal axis[Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency]A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange SyndromeIdentification of RUNX2 variants associated with cleidocranial dysplasia
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description
onderzoeker
@nl
researcher
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հետազոտող
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name
Yongguo Yu
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Yongguo Yu
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Yongguo Yu
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Yongguo Yu
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Yongguo Yu
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Yongguo Yu
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Yongguo Yu
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Yongguo Yu
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yongguo yu
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Yongguo Yu
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Yongguo Yu
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Yongguo Yu
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Yongguo Yu
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P106
P1153
35075578300
P2798
P31
P496
0000-0002-4472-0910