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Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself

Clinical genetics, 2017-07, Vol.92 (1), p.45-51

2017

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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Clinical genetics, 2016-01, Vol.89 (1), p.34-43

2016

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Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia

Bone (New York, N.Y.), 2019-10, Vol.127, p.446-451

2019

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Pregnancy outcome in Charcot–Marie–Tooth disease: results of the CMT‐NET cohort study in Germany

European journal of neurology, 2020-08, Vol.27 (8), p.1390-1396

2020

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PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa

Parkinsonism & related disorders, 2019-06, Vol.63, p.240-242

2019

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Molecular and clinical studies in 8 patients with Temple syndrome

Clinical genetics, 2018-06, Vol.93 (6), p.1179-1188

2018

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NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features

Clinical genetics, 2017-01, Vol.91 (1), p.73-78

2017

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Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients

European journal of neurology, 2011-01, Vol.18 (1), p.191-194

2011

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Chondrosarcoma of bone: An oncological and functional follow-up study

Annals of oncology, 2001-06, Vol.12 (6), p.859-864

2001

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Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Journal of medical genetics, 2007-06, Vol.44 (6), p.e81-e81

2007

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Diagnostik und Therapie des Silver-Russell-Syndroms: Zusammenfassung des ersten internationalen Konsensus-Statements

Monatsschrift Kinderheilkunde, 2017-10, Vol.165 (10), p.895-904

2017

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Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

Brain (London, England : 1878), 2020-08, Vol.143 (8), p.2406-2420

2020

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Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9

Clinical genetics, 2007-06, Vol.71 (6), p.597-598

2007

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Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

Endocrine Connections, 2022-11, Vol.11 (11), p.1-14

2022

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CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

Human molecular genetics, 2010-07, Vol.19 (14), p.2858-2866

2010

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Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics

Der Internist (Berlin), 2018-08, Vol.59 (8), p.756-765

2018

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G.O.5 A new autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein, matrin 3

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.599-599

2009

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Genetics of Pain: Novel variants identified by the European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (ENISNIP)

EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, Vol.30 (SUPPL 1), p.128

2022

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Molekulargenetische Diagnostik von Imprintingerkrankungen: Relevanz von Multilocusmethylierungsdefekten

Medizinische Genetik, 2013-03, Vol.25 (1), p.5-14

2013

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Molekulargenetische Diagnostik von Imprintingerkrankungen

Medizinische Genetik, 2013-03, Vol.25 (1), p.5-14

2013

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Targeted next generation sequencing approach in patients referred for Silver-Russell syndrome testing increases the mutation detection rate and provides decisive information for clinical management

Yearbook of Paediatric Endocrinology, 2018-09

2018

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Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management

The Journal of pediatrics, 2017-08, Vol.187, p.206-212.e1

2017

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Rationaler Einsatz genetischer Tests in der Inneren Medizin: Möglichkeiten und Limitationen der Next-generation-sequencing-Diagnostik

Der Internist (Berlin), 2018-08, Vol.59 (8), p.756-765

2018

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Congenital Imprinting Disorders: A Novel Mechanism Linking Seemingly Unrelated Disorders

The Journal of pediatrics, 2013-10, Vol.163 (4), p.1202-1207

2013

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Autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein matrin 3

Aktuelle Neurologie, 2009, Vol.36 (S 02)

2009

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Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia

Pregnancy outcome in Charcot–Marie–Tooth disease: results of the CMT‐NET cohort study in Germany

PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa

Molecular and clinical studies in 8 patients with Temple syndrome

NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features

Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients

Chondrosarcoma of bone: An oncological and functional follow-up study

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Diagnostik und Therapie des Silver-Russell-Syndroms: Zusammenfassung des ersten internationalen Konsensus-Statements

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics

G.O.5 A new autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein, matrin 3

Genetics of Pain: Novel variants identified by the European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (ENISNIP)

Molekulargenetische Diagnostik von Imprintingerkrankungen: Relevanz von Multilocusmethylierungsdefekten

Molekulargenetische Diagnostik von Imprintingerkrankungen

Targeted next generation sequencing approach in patients referred for Silver-Russell syndrome testing increases the mutation detection rate and provides decisive information for clinical management

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management

Rationaler Einsatz genetischer Tests in der Inneren Medizin: Möglichkeiten und Limitationen der Next-generation-sequencing-Diagnostik

Congenital Imprinting Disorders: A Novel Mechanism Linking Seemingly Unrelated Disorders

Autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein matrin 3

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