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Journal of Medical Genetics
|
July 4, 2009
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
D Doherty, M A Parisi, L S Finn, 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.
Spinal Cord
|
September 8, 2010
SCIM III is reliable and valid in a separate analysis for traumatic spinal cord lesions
V Bluvshtein, L Front, M Itzkovich, et al.
Neuron
|
March 11, 2017
Single-Cell Profiling of an In Vitro Model of Human Interneuron Development Reveals Temporal Dynamics of Cell Type Production and Maturation
Jennie L Close, Zizhen Yao, Boaz P Levi, 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.
Disability and Rehabilitation
|
September 14, 2007
The Spinal Cord Independence Measure (SCIM) version III: reliability and validity in a multi-center international study
M Itzkovich, I Gelernter, F Biering-Sorensen, et al.
Spinal Cord
|
April 13, 2011
Expected spinal cord independence measure, third version, scores for various neurological levels after complete spinal cord lesions
E Aidinoff, L Front, M Itzkovich, et al.
Spinal Cord
|
August 16, 2006
A multicenter international study on the Spinal Cord Independence Measure, version III: Rasch psychometric validation
A Catz, M Itzkovich, L Tesio, 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 69
Search research articles
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Showing results (631-640 of 684) with videos related to
Sort By:
Page
of 69
Journal of Medical Genetics
|
July 4, 2009
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
D Doherty, M A Parisi, L S Finn, 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.
Spinal Cord
|
September 8, 2010
SCIM III is reliable and valid in a separate analysis for traumatic spinal cord lesions
V Bluvshtein, L Front, M Itzkovich, et al.
Neuron
|
March 11, 2017
Single-Cell Profiling of an In Vitro Model of Human Interneuron Development Reveals Temporal Dynamics of Cell Type Production and Maturation
Jennie L Close, Zizhen Yao, Boaz P Levi, 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.
Disability and Rehabilitation
|
September 14, 2007
The Spinal Cord Independence Measure (SCIM) version III: reliability and validity in a multi-center international study
M Itzkovich, I Gelernter, F Biering-Sorensen, et al.
Spinal Cord
|
April 13, 2011
Expected spinal cord independence measure, third version, scores for various neurological levels after complete spinal cord lesions
E Aidinoff, L Front, M Itzkovich, et al.
Spinal Cord
|
August 16, 2006
A multicenter international study on the Spinal Cord Independence Measure, version III: Rasch psychometric validation
A Catz, M Itzkovich, L Tesio, 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 69