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21 Einträge gefunden

Exome sequencing in children and adolescents with rare diseases:Current situation, challenges, perspectives, Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen:Aktueller Stand, Herausforderungen, Perspektiven
2021 - Forschungsinformationssystem des UKE - frei zugänglich
MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy
2018 - Forschungsinformationssystem des UKE
Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results
2017 - Forschungsinformationssystem des UKE
Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation
2014 - Forschungsinformationssystem des UKE
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals
2014 - Forschungsinformationssystem des UKE
Renal intercalated cells are rather energized by a proton than a sodium pump
2013 - Forschungsinformationssystem des UKE
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
2012 - Forschungsinformationssystem des UKE
The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice.
2010 - Forschungsinformationssystem des UKE
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
2010 - Forschungsinformationssystem des UKE
The murine AE4 promoter predominantly drives type B intercalated cell specific transcription.
2009 - Forschungsinformationssystem des UKE
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
2009 - Forschungsinformationssystem des UKE
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
2009 - Forschungsinformationssystem des UKE
Missense exchanges in the TTBK2 gene mutated in SCA11.
2009 - Forschungsinformationssystem des UKE
RDH12 Activity and Effects on Retinoid Processing in the Murine Retina.
2009 - Forschungsinformationssystem des UKE
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
2009 - Forschungsinformationssystem des UKE
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
2008 - Forschungsinformationssystem des UKE
Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability.
2008 - Forschungsinformationssystem des UKE
Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.
2007 - Forschungsinformationssystem des UKE
Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.
2006 - Forschungsinformationssystem des UKE
The forkhead transcription factor Foxi1 directly activates the AE4 promoter.
2006 - Forschungsinformationssystem des UKE

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Exome sequencing in children and adolescents with rare diseases:Current situation, challenges, perspectives, Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen:Aktueller Stand, Herausforderungen, Perspektiven

MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy

Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results

Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals

Renal intercalated cells are rather energized by a proton than a sodium pump

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice.

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

The murine AE4 promoter predominantly drives type B intercalated cell specific transcription.

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

Missense exchanges in the TTBK2 gene mutated in SCA11.

RDH12 Activity and Effects on Retinoid Processing in the Murine Retina.

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability.

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.

Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.

The forkhead transcription factor Foxi1 directly activates the AE4 promoter.