Presentation
Scientific Publications
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2022Journal (source)J Med Genet.
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
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2021Journal (source)Rheumatology (Oxford)
Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associ...
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2020Journal (source)Am. J. Hum. Genet.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta...
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2020Journal (source)J. Bone Miner. Res.
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe...
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2018Journal (source)Neuroimage Clin
Anatomical and functional abnormalities on MRI in kabuki syndrome.
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2018Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2018Journal (source)J Med Genet
mutations are responsible for autosomal recessive osteogenesis imperfecta.
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2013Journal (source)Am J Hum Genet
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asp...
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2012Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.