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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
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals
2014 - 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
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
Missense exchanges in the TTBK2 gene mutated in SCA11.
2009 - Forschungsinformationssystem des UKE
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
2009 - Forschungsinformationssystem des UKE
RDH12 Activity and Effects on Retinoid Processing in the Murine Retina.
2009 - Forschungsinformationssystem des UKE
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
2009 - Forschungsinformationssystem des UKE
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
2009 - Forschungsinformationssystem des UKE
The murine AE4 promoter predominantly drives type B intercalated cell specific transcription.
2009 - Forschungsinformationssystem des UKE
Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability.
2008 - Forschungsinformationssystem des UKE
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
2008 - Forschungsinformationssystem des UKE
Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.
2007 - Forschungsinformationssystem des UKE
Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.
2006 - Forschungsinformationssystem des UKE
Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.
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

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

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

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.

Missense exchanges in the TTBK2 gene mutated in SCA11.

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

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

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

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

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

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

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

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

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.

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