about
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeHomozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursorsSpectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)Expanding the clinical spectrum of MYCN-related Feingold syndromeThree novel KCNA1 mutations in episodic ataxia type I familiesHuman uteroglobin gene: structure, subchromosomal localization, and polymorphismRevertant mosaicism in epidermolysis bullosa caused by mitotic gene conversionAn association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1)Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementWhole-genome sequencing in health care: recommendations of the European Society of Human Genetics.Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.Genetic variants in toll-like receptors are not associated with rheumatoid arthritis susceptibility or anti-tumour necrosis factor treatment outcomeGlycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritisGenome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis.Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsTargeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaMolecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.A case of neuromuscular mimicry.Genome-wide association study confirms extant PD risk loci among the Dutch.Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.Next-generation genetic testing for retinitis pigmentosa.Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease.Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyGene expression profiling in rheumatoid arthritis: current concepts and future directions.Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.Clinical exome sequencing in daily practice: 1,000 patients and beyondAutosomal recessive cerebellar ataxias: the current state of affairs.Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxiaGenotype-phenotype correlations in MYCN-related Feingold syndrome.Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis.A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
P50
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P50
description
hulumtues
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հետազոտող
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name
Hans Scheffer
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Hans Scheffer
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Hans Scheffer
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Hans Scheffer
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Hans Scheffer
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Hans Scheffer
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Hans Scheffer
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Hans Scheffer
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Scheffer H
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Hans Scheffer
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Hans Scheffer
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Hans Scheffer
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Hans Scheffer
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Hans Scheffer
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P1053
E-4644-2012
P106
P21
P31
P3829
P496
0000-0002-2986-0915