Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
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Kurth, Ingo
One or more keywords matched the following items that are connected to Kurth, Ingo
Item TypeName
Academic Article Formation of new chromatin domains determines pathogenicity of genomic duplications.
Academic Article Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.
Academic Article The maternal uniparental disomy of chromosome 6?(upd(6)mat) "phenotype": result of placental trisomy?6?mosaicism?
Academic Article Noncoding copy-number variations are associated with congenital limb malformation.
Academic Article Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
Academic Article A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.
Academic Article Differential diagnosis of vacuolar myopathies in the NGS era.
Academic Article Unusual phenotypes in patients with a pathogenic germline variant in DICER1.
Academic Article Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Academic Article Unique phenotype in a patient with CHARGE syndrome.
Academic Article Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
Academic Article The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.
Academic Article Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.
Academic Article Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Academic Article Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Academic Article Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2?
Academic Article Rdh12 activity and effects on retinoid processing in the murine retina.
Academic Article Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Academic Article The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.
Concept Phenotype
Academic Article Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.
Academic Article Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39.

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