S'identifier

Franco Laccone

Institute of Medical Genetics,
Center for Pathobiochemistry and Genetics,
Institute of Medical Genetics, Center for Pathobiochemistry and Genetics

Medical University of Vienna (MUV)

BIOGRAPHY

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PUBLICATIONS

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.

Clinical genetics Sep, 2008 | Pubmed ID: 18492087

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

European journal of human genetics : EJHG Nov, 2011 | Pubmed ID: 21654728

Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia Jun, 2019 | Pubmed ID: 30962061

INSTITUTIONS

Medical University of Vienna (MUV)

JOVE ARTICLES

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants

Hannes Steinkellner¹,

Alexander V. Beribisky¹,

Philip Mausberg¹,

John Christodoulou²,

Barbara Scheiber-Mojdehkar³,

Anna Huber¹,

Victoria Sarne¹,

Franco Laccone¹

¹Institute of Medical Genetics, Center for Pathobiochemistry and Genetics, Medical University of Vienna (MUV),

²Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Discipline of Child & Adolescent Health, Sydney Medical School,

³Department of Medical Chemistry and Pathobiochemistry, Medical University of Vienna

Biochemistry

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Franco Laccone

.css-o250i3{font-size:18px;font-family:Open Sans,sans-serif;line-height:21.6px;}Institute of Medical Genetics,Center for Pathobiochemistry and Genetics,Institute of Medical Genetics, Center for Pathobiochemistry and Genetics

Medical University of Vienna (MUV)

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants

Institute of Medical Genetics,
Center for Pathobiochemistry and Genetics,
Institute of Medical Genetics, Center for Pathobiochemistry and Genetics