Publications by authors named "David Tilstra"

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Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Zöe Powis, Kelly D Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, David Tilstra

Genet Med· November 2018

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, David Amor, Salim Aftimos, David Tilstra

Hum Mutat· October 2010

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Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
Kevin Martens, Inge Heulens, Sandra Meulemans, Marco Zaffanello, David Tilstra

Eur J Hum Genet· October 2007

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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Jennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, Emma Elson, Joyce T Turner, David Tilstra

Am J Hum Genet· April 2005

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