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Publications by Marie-Céline Deau

A Human Immunodeficiency Caused by Mutations in the PIK3R1 Gene

Journal of Clinical Investigation
Medicine
2014English

Hyper-Activated PI3K-δ In Immunodeficiency

Oncotarget
Oncology
2015English

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Hereditary Spastic Paraplegia Caused by Mutations in the SPG4 Gene

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2000English

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by Mutations in the IFT140 Gene

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2012English

Clinical Course of Cone Dystrophy Caused by Mutations in the RPGR Gene

Graefe's Archive for Clinical and Experimental Ophthalmology
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2011English

Aged Onset of Amyloidosis Caused by Transthyretin Gene Mutations.

Japanese Journal of Geriatrics
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2001English

A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene

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Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array

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Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

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2004English

Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease Caused by LMNA Gene Mutations

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Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

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