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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2020Journal (source)Nat Commun
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
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2018Journal (source)EMBO Mol Med
Human ALPI deficiency causes inflammatory bowel disease and highlights a key ...
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2017Journal (source)Am. J. Hum. Genet.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)J. Am. Soc. Nephrol.
Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano...