Céline Huber Selected Research

Pseudarthrosis (Pseudoarthrosis)

1/2020

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.

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Céline Huber Research Topics

Disease

1	Intellectual Disability (Idiocy) 10/2022
1	Congenital Disorders of Glycosylation 11/2020
1	Catel Manzke syndrome 01/2020
1	Dentinogenesis Imperfecta 01/2020
1	Pseudarthrosis (Pseudoarthrosis) 01/2020
1	Desbuquois syndrome 01/2019
1	Congenital Abnormalities (Deformity) 01/2018
1	Ciliopathies 08/2015
1	Liver Diseases (Liver Disease) 02/2013
1	Polydactyly (Polydactylism) 02/2013
1	Omani type Spondyloepiphyseal dysplasia 08/2012
1	Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 10/2005
1	Weill-Marchesani Syndrome 11/2004
1	Microspherophakia 11/2004
1	Brachydactyly 11/2004
1	Stuve-Wiedemann syndrome 02/2004
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 05/2002

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 10/2022 - 05/2002
1	Proteoglycans (Proteoglycan)IBA 10/2022
1	Protein Isoforms (Isoforms)IBA 11/2020
1	AcidsIBA 01/2020
1	Diphosphonates (Bisphosphonates)IBA 01/2020
1	NAD (NADH)IBA 01/2020
1	nucleotidaseIBA 01/2019
1	CalciumIBA 01/2019
1	Uridine Diphosphate (UDP)IBA 01/2019
1	Nonsense Codon (Nonsense Mutation)IBA 01/2018
1	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 01/2018
1	Retinaldehyde (Retinal)IBA 02/2013
1	ChondroitinIBA 08/2012
1	CarbohydratesIBA 08/2012
1	SulfotransferasesIBA 08/2012
1	Cullin Proteins (Cullins)IBA 10/2005
1	OSM-LIF ReceptorsIBA 02/2004
1	Nuclear Proteins (Protein, Nuclear)IBA 05/2002

Therapy/Procedure

1	Lenses 11/2004