about
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thicknessTranscriptional regulator PRDM12 is essential for human pain perceptionNeuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profileClinical utility gene card for: Alport syndromeX-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" studyAarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 geneKlinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation.A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndromeEpigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxiaDetailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutationGenetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeThe first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report.X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsBest practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.Quaternary epitopes of α345(IV) collagen initiate Alport post-transplant anti-GBM nephritisMoebius sequence -a multidisciplinary clinical approach.The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome.A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans.Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations.Establishment of a pig fibroblast-derived cell line for locus-directed transgene expression in cell cultures and blastocysts.Hypocalcified type of amelogenesis imperfecta in a large family: clinical, radiographic, and histological findings, associated dento-facial anomalies, and resulting treatment load.Chromosomal Aberrations in Monozygotic and Dizygotic Twins Versus Singletons in Denmark During 1968-2009.Clinical utility gene card for: Alport syndrome - update 2014.Eating behavior, prenatal and postnatal growth in Angelman syndrome.The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.Corrigendum to "Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile" [NeuroImage:Clin 4 (2014) 1-9].Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.The Danish HD Registry-a nationwide family registry of HD families in Denmark.Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.The association between gender and familial prevalence of hip dysplasia in Danish patients.Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies.Neuropsychology and brain morphology in Klinefelter syndrome - the impact of genetics.Hereditary spastic paraplegia type 8 - neuropathological findings.Ichthyosis with Confetti Inherited from a Mosaic Father.Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations.Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Jens M Hertz
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Jens M Hertz
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Jens M Hertz
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Jens M Hertz
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Jens M Hertz
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Jens M Hertz
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Jens M Hertz
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Jens M Hertz
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Jens Michael Hertz
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Jens M Hertz
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Jens M Hertz
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Jens M Hertz
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Jens M Hertz
@nl
P106
P31
P496
0000-0003-0087-4739