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Ian G Phelps

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American Journal of Human Genetics|December 24, 2013

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophyKarina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.

Human Mutation|November 1, 2020

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeDaniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.

Journal of Medical Genetics|October 23, 2015

MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.

Science (New York, N.Y.)|May 2, 2024

Risk of meningomyelocele mediated by the common 22q11.2 deletionKeng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.

Nature Cell Biology|July 14, 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.

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Search research articles

Showing results (21-30 of 25) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 25 results.

American Journal of Human Genetics|December 24, 2013

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophyKarina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.

Human Mutation|November 1, 2020

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeDaniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.

Journal of Medical Genetics|October 23, 2015

MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.

Science (New York, N.Y.)|May 2, 2024

Risk of meningomyelocele mediated by the common 22q11.2 deletionKeng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.

Nature Cell Biology|July 14, 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.

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