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The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Human molecular genetics, 2008-07, Vol.17 (14), p.2172-2180

2008

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Mice deficient for RNA-binding protein brunol1 show reduction of spermatogenesis but are fertile

Molecular reproduction and development, 2007-11, Vol.74 (11), p.1456-1464

2007

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Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

BMC medical genetics, 2006-06, Vol.7 (1), p.53-53, Article 53

2006

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A Novel GFAP Mutation and Disseminated White Matter Lesions: Adult Alexander Disease?

European neurology, 2003-01, Vol.50 (2), p.100-105

2003

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Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease

Journal of neurology, 2003-03, Vol.250 (3), p.300-306

2003

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Electrophoresis of DNA in human genetic diagnostics - state-of-the-art, alternatives and future prospects

Electrophoresis, 2006-03, Vol.27 (5-6), p.939-946

2006

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Severe Guillain-Barré syndrome associated with chromosome 17p11.2-12 duplication

Muscle & nerve, 2008-02, Vol.37 (2), p.256-258

2008

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Mice deficient for RNA-binding protein brunoll show reduction of spermatogenesis but are fertile

Molecular reproduction and development, 2007, Vol.74 (11), p.1456-1464

2007

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Expression of Drosophila omb-Related T-Box Genes in the Developing Human and Mouse Neural Retina

Investigative ophthalmology & visual science, 2001-12, Vol.42 (13), p.3095-3102

2001

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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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Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

Human mutation, 2001, Vol.17 (1), p.34-41

2001

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Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24‐q26.31 with minimal overlap to the dup(3q) critical region

American journal of medical genetics. Part A, 2005-01, Vol.132A (1), p.84-89

2005

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Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients

Neuropediatrics, 2002-08, Vol.33 (4), p.194-198

2002

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Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

Human mutation, 1999, Vol.13 (2), p.133-140

1999

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Characterization of the Human TBX20 Gene, a New Member of the T-Box Gene Family Closely Related to the Drosophila H15 Gene

Genomics (San Diego, Calif.), 2000-08, Vol.67 (3), p.317-332

2000

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Gittrige Hornhautdystrophie Typ I. Klinische und molekulargenetische Untersuchung in einer großen Familie

Klinische Monatsblätter für Augenheilkunde, 1998-03, Vol.212 (3), p.154-158

1998

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Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

Human mutation, 1994, Vol.3 (3), p.321-323

1994

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Unklare Sehverschlechterung : Nervenfaserbündeldefekte

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 1999-03, Vol.96 (3), p.212-213

1999

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Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region

American journal of medical genetics, 2005, Vol.132A (1), p.84-89

2005

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Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region

American Journal of Medical Genetics Part A, 2005, Vol.132A (1), p.84-89

2005

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The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Mice deficient for RNA-binding protein brunol1 show reduction of spermatogenesis but are fertile

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

A Novel GFAP Mutation and Disseminated White Matter Lesions: Adult Alexander Disease?

Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease

Electrophoresis of DNA in human genetic diagnostics - state-of-the-art, alternatives and future prospects

Severe Guillain-Barré syndrome associated with chromosome 17p11.2-12 duplication

Mice deficient for RNA-binding protein brunoll show reduction of spermatogenesis but are fertile

Expression of Drosophila omb-Related T-Box Genes in the Developing Human and Mouse Neural Retina

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

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24‐q26.31 with minimal overlap to the dup(3q) critical region

Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

Characterization of the Human TBX20 Gene, a New Member of the T-Box Gene Family Closely Related to the Drosophila H15 Gene

Gittrige Hornhautdystrophie Typ I. Klinische und molekulargenetische Untersuchung in einer großen Familie

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

Unklare Sehverschlechterung : Nervenfaserbündeldefekte

Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region

Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region

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