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Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients

Human reproduction (Oxford), 2021-02, Vol.36 (3), p.551-559

2021

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Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

Frontiers in genetics, 2023, Vol.14, p.1136339-1136339

2023

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Habituelle Aborte – was sagt uns die neue Leitlinie?

Gynäkologische Endokrinologie, 2019-05, Vol.17 (2), p.99-109

2019

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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.498-505

2009

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FKBP51 inhibits GSK3β and augments the effects of distinct psychotropic medications

Molecular psychiatry, 2016-02, Vol.21 (2), p.277-289

2016

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Correlation of genotype and phenotype in glutaryl‐CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 2004-11, Vol.27 (6), p.861-868

2004

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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.488-497

2009

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Carnosine treatment in combination with ACE inhibition in diabetic rats

Regulatory peptides, 2014-11, Vol.194-195, p.36-40

2014

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MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls

Neurogenetics, 2005-02, Vol.6 (1), p.29-35

2005

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Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations

British journal of dermatology (1951), 2017-04, Vol.176 (4), p.1068-1073

2017

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Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss‐of‐function mutation in CSTA

British journal of dermatology (1951), 2015-06, Vol.172 (6), p.1628-1632

2015

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Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas

Clinical neurology and neurosurgery, 2015-01, Vol.128, p.41-43

2015

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Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.96-99

2007

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Phenylketonuria mutations in Europe

Human mutation, 2003-04, Vol.21 (4), p.345-356

Zschocke, Johannes

2003

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Differential Promotion of Glutamate Transporter Expression and Function by Glucocorticoids in Astrocytes from Various Brain Regions

The Journal of biological chemistry, 2005-10, Vol.280 (41), p.34924-34932

2005

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Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.162-172

2006

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Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

Clinical genetics, 2014-10, Vol.86 (4), p.361-366

2014

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Interleukin 1 blockade withcanakinumab for Hyper IGD syndrome (HIDS)

Pediatric rheumatology online journal, 2015-09, Vol.13 (Suppl 1), p.P206-P206, Article P206

2015

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Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

Neurology, 2005-06, Vol.64 (12), p.2142

2005

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Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

Archives of disease in childhood. Fetal and neonatal edition, 2008-03, Vol.93 (2), p.F151-F152

2008

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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

Neurology, 2005-04, Vol.64 (8), p.1461

2005

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Genetische Untersuchungen bei wiederholten Spontanaborten

Gynäkologie (Heidelberg, Germany), 2018-04, Vol.51 (4), p.286-295

2018

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Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy

Neuropediatrics, 2007-04, Vol.38 (2), p.64

2007

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Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)

Journal of inherited metabolic disease, 2007-06, Vol.30 (3), p.375-387

2007

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Mutation analysis in glutaric aciduria type I

Journal of medical genetics, 2000-03, Vol.37 (3), p.177-181

2000

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Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

Habituelle Aborte – was sagt uns die neue Leitlinie?

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

FKBP51 inhibits GSK3β and augments the effects of distinct psychotropic medications

Correlation of genotype and phenotype in glutaryl‐CoA dehydrogenase deficiency

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

Carnosine treatment in combination with ACE inhibition in diabetic rats

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss‐of‐function mutation in CSTA

Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas

Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy

Phenylketonuria mutations in Europe

Differential Promotion of Glutamate Transporter Expression and Function by Glucocorticoids in Astrocytes from Various Brain Regions

Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

Interleukin 1 blockade withcanakinumab for Hyper IGD syndrome (HIDS)

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

Genetische Untersuchungen bei wiederholten Spontanaborten

Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)

Mutation analysis in glutaric aciduria type I

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