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Current-Driven Spin Dynamics of Artificially Constructed Quantum Magnets

Science (American Association for the Advancement of Science), 2013-01, Vol.339 (6115), p.55-59

2013

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First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy

Neuro-degenerative diseases, 2020-10, Vol.20 (1), p.35-38

2020

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Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

eLife, 2016-08, Vol.5

2016

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Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

American journal of human genetics, 2016-03, Vol.98 (3), p.473-489

2016

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Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Journal of medical genetics, 2014-06, Vol.51 (6), p.375-387

2014

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The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Pediatrics (Evanston), 2012-01, Vol.129 (1), p.e148-e156

2012

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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

PLoS genetics, 2017-04, Vol.13 (4), p.e1006746-e1006746

2017

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Genetics in medicine, 2023-11, Vol.25 (11), p.100964-100964, Article 100964

2023

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POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

Journal of medical genetics, 2014-04, Vol.51 (4), p.275-282

2014

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Genetics in medicine, 2023-10, Vol.25 (10), p.100927-100927, Article 100927

2023

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Redefining the MED13L syndrome

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1308-1317

2015

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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

American journal of human genetics, 2013-05, Vol.92 (5), p.681-695

2013

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Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.253-256

2017

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Kluever-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.253-256

2017

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Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

American journal of human genetics, 2006-08, Vol.79 (2), p.303-312

2006

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Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis

Human mutation, 2007-08, Vol.28 (8), p.808-815

2007

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Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

Cell cycle (Georgetown, Tex.), 2014-05, Vol.13 (10), p.1650-1651

2014

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Gläubigerschutz bei grenzüberschreitenden Umgründungen nach dem EU-Umgründungsgesetz: Eine erste Bestandaufnahme

Zeitschrift für Gesellschaftsrecht und angrenzendes Steuerrecht, 2023-06, Vol.22 (3), p.115

Hubner, Christoph

2023

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Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1

Orphanet journal of rare diseases, 2014-10, Vol.9 (1), p.113-113, Article 113

2014

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Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease

Journal of molecular medicine (Berlin, Germany), 2009, Vol.87 (1), p.31-41

2009

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Zur Dritthaftung des Verschmelzungsprüfers

Zeitschrift für Gesellschaftsrecht und angrenzendes Steuerrecht, 2022-09, Vol.21 (5), p.239

2022

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Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Human molecular genetics, 2004-09, Vol.13 (18), p.2031-2042

2004

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HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

European journal of human genetics : EJHG, 2009-12, Vol.17 (12), p.1570-1576

2009

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Current-Driven Spin Dynamics of Artificially Constructed Quantum Magnets

First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Redefining the MED13L syndrome

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

Kluever-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

Gläubigerschutz bei grenzüberschreitenden Umgründungen nach dem EU-Umgründungsgesetz: Eine erste Bestandaufnahme

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1

Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease

Zur Dritthaftung des Verschmelzungsprüfers

Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

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