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The Journal of Clinical Investigation
|
March 2, 2026
Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease
Johannes Münch, Jana Petrovska, Joana Figueiro-Silva, et al.
Plos Genetics
|
October 21, 2015
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish
Margo Dona, Ruxandra Bachmann-Gagescu, Yves Texier, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2019
Healthcare recommendations for Joubert syndrome
Ruxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.
American Journal of Human Genetics
|
December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Paranchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
American Journal of Human Genetics
|
June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
The Journal of Clinical Investigation
|
May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Brooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Annals of Neurology
|
September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
American Journal of Human Genetics
|
December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.
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Search research articles
Search
Showing results (41-50 of 51) with videos related to
Sort By:
Page
of 6
The Journal of Clinical Investigation
|
March 2, 2026
Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease
Johannes Münch, Jana Petrovska, Joana Figueiro-Silva, et al.
Plos Genetics
|
October 21, 2015
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish
Margo Dona, Ruxandra Bachmann-Gagescu, Yves Texier, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2019
Healthcare recommendations for Joubert syndrome
Ruxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.
American Journal of Human Genetics
|
December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Paranchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
American Journal of Human Genetics
|
June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
The Journal of Clinical Investigation
|
May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Brooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Annals of Neurology
|
September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
American Journal of Human Genetics
|
December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.
Page
of 6