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Nature Neuroscience
|
June 18, 2021
Spatial and cell type transcriptional landscape of human cerebellar development
Kimberly A Aldinger, Zachary Thomson, Ian G Phelps, et al.
Therapeutic Advances in Rare Disease
|
July 14, 2025
Finding buried genetic test results in the electronic health record is inefficient and variable across institutions
Olivia J Veatch, Jomol Mathew, Shira Rockowitz, et al.
American Journal of Human Genetics
|
November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
Ideke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
Journal of Medical Genetics
|
February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, et al.
HGG Advances
|
April 1, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
Julie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, et al.
Nature Genetics
|
June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Heleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.
Developmental Cell
|
August 15, 2023
Single-cell census of human tooth development enables generation of human enamel
Ammar Alghadeer, Sesha Hanson-Drury, Anjali P Patni, 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 18, 2018
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
Amy J LaCroix, Deborah Stabley, Rebecca Sahraoui, et al.
Neuron
|
October 11, 2023
Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development
Minjie Shen, Carissa L Sirois, Yu Guo, et al.
Page
of 10
Search research articles
Search
Showing results (71-80 of 100) with videos related to
Sort By:
Page
of 10
Nature Neuroscience
|
June 18, 2021
Spatial and cell type transcriptional landscape of human cerebellar development
Kimberly A Aldinger, Zachary Thomson, Ian G Phelps, et al.
Therapeutic Advances in Rare Disease
|
July 14, 2025
Finding buried genetic test results in the electronic health record is inefficient and variable across institutions
Olivia J Veatch, Jomol Mathew, Shira Rockowitz, et al.
American Journal of Human Genetics
|
November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
Ideke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
Journal of Medical Genetics
|
February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, et al.
HGG Advances
|
April 1, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
Julie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, et al.
Nature Genetics
|
June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Heleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.
Developmental Cell
|
August 15, 2023
Single-cell census of human tooth development enables generation of human enamel
Ammar Alghadeer, Sesha Hanson-Drury, Anjali P Patni, 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 18, 2018
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
Amy J LaCroix, Deborah Stabley, Rebecca Sahraoui, et al.
Neuron
|
October 11, 2023
Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development
Minjie Shen, Carissa L Sirois, Yu Guo, et al.
Page
of 10