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American Journal of Medical Genetics. Part A
|
June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing
Johanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
Molecular Medicine (Cambridge, Mass.)
|
March 29, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
Go Hun Seo, Hane Lee, Jungsul Lee, et al.
Brain Communications
|
March 10, 2023
Characterization of spastic paraplegia in a family with a novel <i>PSEN1</i> mutation
John M Ringman, Naghmeh Dorrani, Sara Gutiérrez Fernández, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Human Mutation
|
April 14, 2025
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program
Rin Khang, Hane Lee, Jihye Kim, et al.
Nature Communications
|
October 13, 2022
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
Lauren G Mascibroda, Mohammad Shboul, Nathan D Elrod, et al.
Human Mutation
|
October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Steven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.
Human Mutation
|
November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Kathie J Ngo, Jessica E Rexach, Hane Lee, et al.
American Journal of Human Genetics
|
November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Development (Cambridge, England)
|
October 9, 2020
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in <i>RFX6</i>
Jamie Trott, Yunus Alpagu, Ee Kim Tan, et al.
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of 14
Search research articles
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Showing results (101-110 of 134) with videos related to
Sort By:
Page
of 14
American Journal of Medical Genetics. Part A
|
June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing
Johanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
Molecular Medicine (Cambridge, Mass.)
|
March 29, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
Go Hun Seo, Hane Lee, Jungsul Lee, et al.
Brain Communications
|
March 10, 2023
Characterization of spastic paraplegia in a family with a novel <i>PSEN1</i> mutation
John M Ringman, Naghmeh Dorrani, Sara Gutiérrez Fernández, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Human Mutation
|
April 14, 2025
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program
Rin Khang, Hane Lee, Jihye Kim, et al.
Nature Communications
|
October 13, 2022
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
Lauren G Mascibroda, Mohammad Shboul, Nathan D Elrod, et al.
Human Mutation
|
October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Steven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.
Human Mutation
|
November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Kathie J Ngo, Jessica E Rexach, Hane Lee, et al.
American Journal of Human Genetics
|
November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Development (Cambridge, England)
|
October 9, 2020
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in <i>RFX6</i>
Jamie Trott, Yunus Alpagu, Ee Kim Tan, et al.
Page
of 14