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NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.2902-2912

2015

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Optical coherence tomography morphology and evolution in cblC disease‐related maculopathy in a case series of very young patients

Acta ophthalmologica (Oxford, England), 2017-12, Vol.95 (8), p.e776-e782

2017

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Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient

Annals of clinical and translational neurology, 2022-06, Vol.9 (6), p.888-892

2022

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Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution

Neuromuscular disorders : NMD, 2018-10, Vol.28 (10), p.865-867

2018

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Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

Journal of the neurological sciences, 2014-07, Vol.342 (1), p.69-78

2014

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Long-term liver disease in methylmalonic and propionic acidemias

Molecular genetics and metabolism, 2018-04, Vol.123 (4), p.433-440

2018

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Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial

Orphanet journal of rare diseases, 2022-11, Vol.17 (1), p.417-13, Article 417

2022

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Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

Orphanet journal of rare diseases, 2018-06, Vol.13 (1), p.97-97, Article 97

2018

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The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-08, Vol.160C (3), p.217-229

2012

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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.44-49

2016

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Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-08, Vol.160C (3), p.230-237

2012

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Angelman syndrome and isovaleric acidemia: What is the link?

Molecular genetics and metabolism reports, 2015-06, Vol.3 (C), p.36-38

2015

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Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.135-135, Article 135

2018

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Severe Neurologic Manifestations From Cervical Spine Instability in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia: New Topics in the Skeletal Dysplasias

American journal of medical genetics. Part C, Seminars in medical genetics, 2012, Vol.160 (3), p.230-237

2012

Volltextzugriff (PDF)

The Diagnostic Challenge of Progressive Pseudorheumatoid Dysplasia (PPRD): A Review of Clinical Features, Radiographic Features, and WISP3 Mutations in 63 Affected Individuals: New Topics in the Skeletal Dysplasias

American journal of medical genetics. Part C, Seminars in medical genetics, 2012, Vol.160 (3), p.217-229

2012

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Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient

Annals of clinical and translational neurology, 2022, Vol.9 (6), p.888-892

2022

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Minimally Invasive Compared With Open Hysterectomy in High-Risk Endometrial Cancer

Obstetrics and gynecology (New York. 1953), 2021-12, Vol.138 (6), p.828

2021

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YKT6 expression, exosome release, and survival in non-small cell lung cancer

Oncotarget, 2016-08, Vol.7 (32), p.51515-51524

2016

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Lung cancer diagnosis by trained dogs

European journal of cardio-thoracic surgery, 2017-12, Vol.52 (6), p.1206-1210

2017

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The role of psychosis and clozapine load in excessive checking in treatment-resistant schizophrenia: longitudinal observational study

British journal of psychiatry, 2024-05, Vol.224 (5), p.164-169

2024

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Hydroxychloroquine is associated with a lower risk of polyautoimmunity: data from the RELESSER Registry

Rheumatology (Oxford, England), 2020-08, Vol.59 (8), p.2043-2051

2020

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Clinical significance of long non-coding RNA HOTTIP in early-stage non-small-cell lung cancer

BMC pulmonary medicine, 2019-02, Vol.19 (1), p.55-55, Article 55

2019

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Impact of an antimicrobial stewardship program indicator on the appropriateness of the empiric antibiotic treatment of urinary source Escherichia coli bacteraemia

International journal of antimicrobial agents, 2024-08, Vol.64 (2), p.107202, Article 107202

2024

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The significance of PIWI family expression in human lung embryogenesis and non-small cell lung cancer

Oncotarget, 2015-10, Vol.6 (31), p.31544-31556

2015

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NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

Optical coherence tomography morphology and evolution in cblC disease‐related maculopathy in a case series of very young patients

Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient

Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

Long-term liver disease in methylmalonic and propionic acidemias

Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia

Angelman syndrome and isovaleric acidemia: What is the link?

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Severe Neurologic Manifestations From Cervical Spine Instability in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia: New Topics in the Skeletal Dysplasias

The Diagnostic Challenge of Progressive Pseudorheumatoid Dysplasia (PPRD): A Review of Clinical Features, Radiographic Features, and WISP3 Mutations in 63 Affected Individuals: New Topics in the Skeletal Dysplasias

Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient

Minimally Invasive Compared With Open Hysterectomy in High-Risk Endometrial Cancer

YKT6 expression, exosome release, and survival in non-small cell lung cancer

Lung cancer diagnosis by trained dogs

The role of psychosis and clozapine load in excessive checking in treatment-resistant schizophrenia: longitudinal observational study

Hydroxychloroquine is associated with a lower risk of polyautoimmunity: data from the RELESSER Registry

Clinical significance of long non-coding RNA HOTTIP in early-stage non-small-cell lung cancer

Impact of an antimicrobial stewardship program indicator on the appropriateness of the empiric antibiotic treatment of urinary source Escherichia coli bacteraemia

The significance of PIWI family expression in human lung embryogenesis and non-small cell lung cancer

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