Presentation
Resources & publications
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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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2020Journal (source)Bone
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphal...
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2020Journal (source)J. Exp. Med.
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann ...
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2018Journal (source)Nat Commun.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2018Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2018Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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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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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...