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Human Molecular Genetics
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July 2, 2015
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
Renske Oegema, Thomas D Cushion, Ian G Phelps, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
November 8, 2017
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center
Anna Strongin, Theo Heller, Dan Doherty, et al.
Stem Cell Reports
|
June 23, 2023
Donor perspectives on informed consent and use of biospecimens for brain organoid research
Katherine E MacDuffie, Jason L Stein, Dan Doherty, et al.
Biorxiv : the Preprint Server for Biology
|
July 3, 2023
Multimodal analyses reveal genes driving electrophysiological maturation of neurons in the primate prefrontal cortex
Yu Gao, Qiping Dong, Kalpana Hanthanan Arachchilage, et al.
American Journal of Medical Genetics. Part A
|
May 13, 2017
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center
Angela C Summers, Joseph Snow, Edythe Wiggs, et al.
Science (New York, N.Y.)
|
November 13, 2020
A human cell atlas of fetal gene expression
Junyue Cao, Diana R O'Day, Hannah A Pliner, et al.
Journal of Medical Genetics
|
January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Ruxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.
Journal of Medical Genetics
|
January 15, 2017
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
Andrea Poretti, Joseph Snow, Angela C Summers, et al.
American Journal of Human Genetics
|
May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability
Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.
Science (New York, N.Y.)
|
November 13, 2020
A human cell atlas of fetal chromatin accessibility
Silvia Domcke, Andrew J Hill, Riza M Daza, et al.
Page
of 10
Search research articles
Search
Showing results (51-60 of 100) with videos related to
Sort By:
Page
of 10
Human Molecular Genetics
|
July 2, 2015
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
Renske Oegema, Thomas D Cushion, Ian G Phelps, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
November 8, 2017
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center
Anna Strongin, Theo Heller, Dan Doherty, et al.
Stem Cell Reports
|
June 23, 2023
Donor perspectives on informed consent and use of biospecimens for brain organoid research
Katherine E MacDuffie, Jason L Stein, Dan Doherty, et al.
Biorxiv : the Preprint Server for Biology
|
July 3, 2023
Multimodal analyses reveal genes driving electrophysiological maturation of neurons in the primate prefrontal cortex
Yu Gao, Qiping Dong, Kalpana Hanthanan Arachchilage, et al.
American Journal of Medical Genetics. Part A
|
May 13, 2017
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center
Angela C Summers, Joseph Snow, Edythe Wiggs, et al.
Science (New York, N.Y.)
|
November 13, 2020
A human cell atlas of fetal gene expression
Junyue Cao, Diana R O'Day, Hannah A Pliner, et al.
Journal of Medical Genetics
|
January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Ruxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.
Journal of Medical Genetics
|
January 15, 2017
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
Andrea Poretti, Joseph Snow, Angela C Summers, et al.
American Journal of Human Genetics
|
May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability
Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.
Science (New York, N.Y.)
|
November 13, 2020
A human cell atlas of fetal chromatin accessibility
Silvia Domcke, Andrew J Hill, Riza M Daza, et al.
Page
of 10