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Publications by T Attié-Bitach

Mutations of IFT81, Encoding an IFT-B Core Protein, as a Rare Cause of a Ciliopathy

English

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Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

American Journal of Human Genetics

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Confirmation of EP300 Gene Mutations as a Rare Cause of Rubinstein–Taybi Syndrome

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Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

American Journal of Human Genetics

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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

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A Rare Cause of an Adrenal Incidentaloma

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Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

American Journal of Human Genetics

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Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

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Case Report: Case Report: Pulmonary Hemorrhage as a Rare Cause of Lung Ultrasound a/B-Profile

Molecular Biology

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Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations

American Journal of Human Genetics

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