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American Journal of Medical Genetics. Part A
|
August 9, 2022
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population
Rachel Rabin, Yoel Hirsch, Wendy K Chung, et al.
American Journal of Medical Genetics. Part A
|
September 29, 2021
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families
Hagit Daum, Mythily Ganapathi, Yoel Hirsch, et al.
Ophthalmic Genetics
|
October 26, 2019
An Ashkenazi Jewish founder mutation in <i>CACNA1F</i> causes retinal phenotype in both hemizygous males and heterozygous female carriers
Adva Kimchi, Vardiella Meiner, Shira Silverstein, et al.
Clinical Genetics
|
April 2, 2023
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay
Alisa Mo, Emuna Paz-Ebstein, Shira Yanovsky-Dagan, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2021
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
Bassam Abu-Libdeh, Hagar Mor-Shaked, Amir A Atawna, 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.
Biorxiv : the Preprint Server for Biology
|
March 30, 2023
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure
Audrey G O'Neill, Anika L Burrell, Michael Zech, et al.
The Journal of Biological Chemistry
|
July 6, 2023
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation
Audrey G O'Neill, Anika L Burrell, Michael Zech, et al.
ERJ Open Research
|
January 15, 2021
Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia
Alex Gileles-Hillel, Hagar Mor-Shaked, David Shoseyov, et al.
Clinical Genetics
|
September 27, 2025
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, et al.
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Search research articles
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Showing results (21-30 of 52) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
August 9, 2022
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population
Rachel Rabin, Yoel Hirsch, Wendy K Chung, et al.
American Journal of Medical Genetics. Part A
|
September 29, 2021
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families
Hagit Daum, Mythily Ganapathi, Yoel Hirsch, et al.
Ophthalmic Genetics
|
October 26, 2019
An Ashkenazi Jewish founder mutation in <i>CACNA1F</i> causes retinal phenotype in both hemizygous males and heterozygous female carriers
Adva Kimchi, Vardiella Meiner, Shira Silverstein, et al.
Clinical Genetics
|
April 2, 2023
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay
Alisa Mo, Emuna Paz-Ebstein, Shira Yanovsky-Dagan, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2021
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
Bassam Abu-Libdeh, Hagar Mor-Shaked, Amir A Atawna, 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.
Biorxiv : the Preprint Server for Biology
|
March 30, 2023
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure
Audrey G O'Neill, Anika L Burrell, Michael Zech, et al.
The Journal of Biological Chemistry
|
July 6, 2023
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation
Audrey G O'Neill, Anika L Burrell, Michael Zech, et al.
ERJ Open Research
|
January 15, 2021
Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia
Alex Gileles-Hillel, Hagar Mor-Shaked, David Shoseyov, et al.
Clinical Genetics
|
September 27, 2025
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, et al.
Page
of 6