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Clinical Genetics
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May 22, 2025
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants
Adina Fuchs, Inbar Kobal, Dov Popper, et al.
Stem Cell Reports
|
November 25, 2014
FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells
Michal Avitzour, Hagar Mor-Shaked, Shira Yanovsky-Dagan, et al.
Orphanet Journal of Rare Diseases
|
April 15, 2025
Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms
Shlomit Ezer, Nathan Ronin, Shira Yanovsky-Dagan, et al.
Brain : a Journal of Neurology
|
November 17, 2021
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
Shlomit Ezer, Muhannad Daana, Julien H Park, et al.
Stem Cell Reports
|
July 21, 2015
Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells
Shira Yanovsky-Dagan, Michal Avitzour, Gheona Altarescu, et al.
Journal of Medical Genetics
|
December 29, 2022
Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorder
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, et al.
Brain Communications
|
September 13, 2021
Levodopa-responsive dystonia caused by biallelic <i>PRKN</i> exon inversion invisible to exome sequencing
Hagar Mor-Shaked, Emuna Paz-Ebstein, Adily Basal, et al.
JCI Insight
|
December 20, 2024
Talin1 dysfunction is genetically linked to systemic capillary leak syndrome
Naama Elefant, Georgia Rouni, Christina Arapatzi, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research
|
April 11, 2025
Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer
Michal Cagalinec, Adnan Mohd, Silvia Borecka, et al.
Nature Communications
|
April 16, 2024
Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus
Tayma Handal, Sarah Juster, Manar Abu Diab, et al.
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Search research articles
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Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
Clinical Genetics
|
May 22, 2025
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants
Adina Fuchs, Inbar Kobal, Dov Popper, et al.
Stem Cell Reports
|
November 25, 2014
FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells
Michal Avitzour, Hagar Mor-Shaked, Shira Yanovsky-Dagan, et al.
Orphanet Journal of Rare Diseases
|
April 15, 2025
Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms
Shlomit Ezer, Nathan Ronin, Shira Yanovsky-Dagan, et al.
Brain : a Journal of Neurology
|
November 17, 2021
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
Shlomit Ezer, Muhannad Daana, Julien H Park, et al.
Stem Cell Reports
|
July 21, 2015
Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells
Shira Yanovsky-Dagan, Michal Avitzour, Gheona Altarescu, et al.
Journal of Medical Genetics
|
December 29, 2022
Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorder
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, et al.
Brain Communications
|
September 13, 2021
Levodopa-responsive dystonia caused by biallelic <i>PRKN</i> exon inversion invisible to exome sequencing
Hagar Mor-Shaked, Emuna Paz-Ebstein, Adily Basal, et al.
JCI Insight
|
December 20, 2024
Talin1 dysfunction is genetically linked to systemic capillary leak syndrome
Naama Elefant, Georgia Rouni, Christina Arapatzi, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research
|
April 11, 2025
Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer
Michal Cagalinec, Adnan Mohd, Silvia Borecka, et al.
Nature Communications
|
April 16, 2024
Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus
Tayma Handal, Sarah Juster, Manar Abu Diab, et al.
Page
of 3