Presentation
Resources & publications
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2019Journal (source)J. Invest. Dermatol.A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia.
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2019Journal (source)Blood
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
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2019Journal (source)J. Clin. Invest.
Human C-terminal CUBN variants associate with chronic proteinuria and normal ...
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2015Journal (source)J. Clin. Invest.
A human immunodeficiency caused by mutations in the PIK3R1 gene.
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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2021Journal (source)J Allergy Clin Immunol
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α a...
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2016Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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2013Journal (source)Am J Hum Genet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.