about
NEK1 mutations cause short-rib polydactyly syndrome type majewskiSeverely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumMutations in the pericentrin (PCNT) gene cause primordial dwarfismRange of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyDeficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGenome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma.The clinical significance of small copy number variants in neurodevelopmental disordersRare copy number variants are a common cause of short stature.Molecular karyotyping using an SNP array for genomewide genotyping.Mutations in CDK5RAP2 cause Seckel syndromeDownstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophyMolecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arraysThe molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation.Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.Exome Pool-Seq in neurodevelopmental disorders.Disruption of ST5 is associated with mental retardation and multiple congenital anomalies.Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.Clinical and mutational spectrum of Mowat-Wilson syndrome.Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.Biallelic SEMA3A defects cause a novel type of syndromic short stature.Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterizationNovel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Christian T Thiel
@ast
Christian T Thiel
@en
Christian T Thiel
@es
Christian T Thiel
@nl
Christian T Thiel
@sl
type
label
Christian T Thiel
@ast
Christian T Thiel
@en
Christian T Thiel
@es
Christian T Thiel
@nl
Christian T Thiel
@sl
altLabel
Christian Thiel
@en
prefLabel
Christian T Thiel
@ast
Christian T Thiel
@en
Christian T Thiel
@es
Christian T Thiel
@nl
Christian T Thiel
@sl
P1053
H-8964-2012
P106
P21
P31
P496
0000-0003-3817-7277