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CHARGE and Kabuki syndromes: a phenotypic and molecular link

Human molecular genetics, 2014-08, Vol.23 (16), p.4396-4405

2014

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Genomic information and a person's right not to know: A closer look at variations in hypothetical informational preferences in a German sample

PloS one, 2018-06, Vol.13 (6), p.e0198249-e0198249

2018

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A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2634-2640

2013

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The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Science (American Association for the Advancement of Science), 1992-08, Vol.257 (5071), p.797-800

1992

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A look into the future? Patients' and health care staff's perception and evaluation of genetic information and the right not to know

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2019-12, Vol.180 (8), p.576-588

2019

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CHARGE and Kabuki syndromes: a phenotypic and molecular link

Human molecular genetics, 2014-08, Vol.23 (16), p.4396

2014

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Das Sogenannte Recht Auf Nichtwissen: Normatives Fundament und Anwendungspraktische Geltungskraft

1, 2019

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Tectonic gene mutations in patients with Joubert syndrome

European journal of human genetics : EJHG, 2015-05, Vol.23 (5), p.616-620

2015

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Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

Molecular cytogenetics, 2009-03, Vol.2 (1), p.10-10, Article 10

2009

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Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome

Journal of clinical oncology, 2015-05, Vol.33 (13), p.e62-e65

2015

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Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes

European journal of medical genetics, 2012-08, Vol.55 (8), p.480-484

2012

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Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

Molecular cytogenetics, 2014-10, Vol.7 (1), p.74-74, Article 74

2014

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Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset

Neurology. Genetics, 2017-08, Vol.3 (4), p.e167-e167

2017

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A de novo interstitial deletion of 2p23.3–24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.429-433

2012

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Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2832-2837

2009

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De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis

Molecular cytogenetics, 2014-01, Vol.7 (1), p.7-7

2014

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Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

Molecular genetics & genomic medicine, 2017-01, Vol.5 (1), p.21-27

2017

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A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.229-235

2012

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An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype

European journal of medical genetics, 2007-03, Vol.50 (2), p.133-138

2007

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Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17

Human genetics, 1991-11, Vol.88 (1), p.71-74

1991

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Isolation and characterization of the human forkhead gene FOXQ1

DNA and cell biology, 2001-09, Vol.20 (9), p.555

2001

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Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents

European archives of oto-rhino-laryngology, 2006, Vol.263 (1), p.53-61

2006

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Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10

Human mutation, 2003-01, Vol.21 (1), p.98-98

2003

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CHARGE and Kabuki syndromes: a phenotypic and molecular link

Genomic information and a person's right not to know: A closer look at variations in hypothetical informational preferences in a German sample

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review

The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

A look into the future? Patients' and health care staff's perception and evaluation of genetic information and the right not to know

CHARGE and Kabuki syndromes: a phenotypic and molecular link

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Das Sogenannte Recht Auf Nichtwissen: Normatives Fundament und Anwendungspraktische Geltungskraft

Tectonic gene mutations in patients with Joubert syndrome

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

A de novo interstitial deletion of 2p23.3–24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy

Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia

De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect

An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17

Isolation and characterization of the human forkhead gene FOXQ1

Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10

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