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Gadolinium Brain Deposition after Macrocyclic Gadolinium Administration: A Pediatric Case-Control Study

Radiology, 2017-10, Vol.285 (1), p.223-230

2017

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Pulmonale Erkrankungen beim Immunsupprimierten

RöFo : Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebende Verfahren, 2019-09, Vol.191 (S 02), p.S125-S126

Schaper, Jörg

2019

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Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

Brain (London, England : 1878), 2016-02, Vol.139 (Pt 2), p.346-354

2016

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Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

Nature communications, 2019-07, Vol.10 (1), p.2966-14, Article 2966

2019

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QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum

Clinical genetics, 2021-01, Vol.99 (1), p.199-207

2021

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FGF9 -Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family

Genes, 2023-03, Vol.14 (3), p.724

2023

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The Growing Spectrum of DADA2 Manifestations—Diagnostic and Therapeutic Challenges Revisited

Frontiers in pediatrics, 2022-06, Vol.10, p.885893-885893

2022

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Phenotype diversity associated with TP63 mutations

Journal der Deutschen Dermatologischen Gesellschaft, 2022-06, Vol.20 (6), p.872-875

2022

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Phänotypische Vielfalt bei Varianten im TP63 ‐Gen

Journal der Deutschen Dermatologischen Gesellschaft, 2022-06, Vol.20 (6), p.871-875

2022

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De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly

Clinical immunology (Orlando, Fla.), 2016-01, Vol.162, p.27-30

2016

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A guide to diagnosis and treatment of Leigh syndrome

Journal of Neurology, Neurosurgery and Psychiatry, 2014-03, Vol.85 (3), p.257-265

2014

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Fanconi Syndrome Caused by Antiepileptic Therapy with Valproic Acid

Epilepsia (Copenhagen), 2004-07, Vol.45 (7), p.868-871

2004

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The many faces of paediatric mitochondrial disease on neuroimaging

Child's nervous system, 2016-11, Vol.32 (11), p.2077-2083

2016

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Lymphnode tuberculosis in a 4-year-old boy with relapsed ganglioneuroblastoma: a case report

BMC infectious diseases, 2018-03, Vol.18 (1), p.105-105, Article 105

2018

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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Kidney international, 2019-06, Vol.95 (6), p.1494-1504

2019

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Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.889-893

2017

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Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration

The FASEB journal, 2019-10, Vol.33 (10), p.11507-11527

2019

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COVID-19 in a Child with Pre-Existing Immunodeficiency, Cardiomyopathy, and Chronic Pulmonary Disease

Klinische Pädiatrie, 2020-09, Vol.232 (5), p.275-278

2020

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Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis

European journal of pediatrics, 2008-12, Vol.167 (12), p.1449-1452

2008

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Lesions in Congenital Nephrotic Syndrome

The Journal of pediatrics, 2007-08, Vol.151 (2), p.221-221

2007

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A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome

Clinical immunology (Orlando, Fla.), 2014-12, Vol.155 (2), p.231-237

2014

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Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency

Neurology, 2013-07, Vol.81 (2), p.e10

2013

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Microbial communities related to volatile organic compound emission in automobile air conditioning units

Applied microbiology and biotechnology, 2013-10, Vol.97 (19), p.8777-8793

2013

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Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement

European journal of medical genetics, 2020-02, Vol.63 (2), p.103649, Article 103649

2020

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Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas

Brain & development (Tokyo. 1979), 2006-06, Vol.28 (5), p.275-280

2006

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Gadolinium Brain Deposition after Macrocyclic Gadolinium Administration: A Pediatric Case-Control Study

Pulmonale Erkrankungen beim Immunsupprimierten

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum

FGF9 -Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family

The Growing Spectrum of DADA2 Manifestations—Diagnostic and Therapeutic Challenges Revisited

Phenotype diversity associated with TP63 mutations

Phänotypische Vielfalt bei Varianten im TP63 ‐Gen

De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly

A guide to diagnosis and treatment of Leigh syndrome

Fanconi Syndrome Caused by Antiepileptic Therapy with Valproic Acid

The many faces of paediatric mitochondrial disease on neuroimaging

Lymphnode tuberculosis in a 4-year-old boy with relapsed ganglioneuroblastoma: a case report

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration

COVID-19 in a Child with Pre-Existing Immunodeficiency, Cardiomyopathy, and Chronic Pulmonary Disease

Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis

Lesions in Congenital Nephrotic Syndrome

A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome

Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency

Microbial communities related to volatile organic compound emission in automobile air conditioning units

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement

Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas

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