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Jennifer C Dempsey

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The Journal of Clinical Investigation|May 27, 2020

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndromeBrooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.

Journal of Medical Genetics|October 22, 2021

<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.

Ebiomedicine|April 25, 2025

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.

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Search research articles

Showing results (41-50 of 44) with videos related to

Sort By:

Pageof 5

You have reached the last page of results.This site can display upto 44 results.

The Journal of Clinical Investigation|May 27, 2020

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndromeBrooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.

Journal of Medical Genetics|October 22, 2021

<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.

Ebiomedicine|April 25, 2025

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.

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