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Publications by Valérie Pelletier

Exome Sequencing of Bardet–Biedl Syndrome Patient Identifies a Null Mutation in the BBSome subunitBBIP1(BBS18)

Journal of Medical Genetics
Genetics
2013English

Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

Human Mutation
Genetics
2019English

Related publications

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

BioMed Research International
ImmunologyMolecular BiologyBiochemistryMicrobiology MedicineGenetics
2015English

Bardet-Biedl Syndrome

Molecular Syndromology
Genetics
2016English

Bardet-Biedl Syndrome

Journal of Evolution of Medical and Dental Sciences
2016English

A Case of Bardet Biedl Syndrome

The Internet Journal of Pediatrics and Neonatology
2007English

Bardet-Biedl Syndrome 3 (BBS3)

Science-Business eXchange
2010English

Syndrome De Bardet-Biedl : Cils Et Obésité

Medecine/Sciences
BiochemistryMedicineGeneticsMolecular Biology
2014English

Novel Mechanisms of Bardet-Biedl Syndrome Proteins

English

Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2013English

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Frontiers in Immunology
AllergyImmunology
2017English

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