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Journal of Medical Genetics
|
February 24, 2021
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Melyssa Aronson, Chrystelle Colas, Andrew Shuen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 2, 2023
Utility of genetic testing in children with leukodystrophy
Ayelet Zerem, Stephanie Libzon, Liat Ben Sira, et al.
Harefuah
|
July 2, 2023
[GENOTYPE-PHENOTYPE CORRELATIONS BY SPECIFIC FOUNDER VARIANTS IN BRCA IN ISRAELI WOMEN]
Rachel Michaelson-Cohen, Yael Laitman, Inbal Kedar, et al.
Orphanet Journal of Rare Diseases
|
August 8, 2024
Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessments
Leighann Litcher-Kelly, Ahmet Ozen, Sarah Ollis, et al.
Journal of Human Genetics
|
May 13, 2021
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function
Nadra Samra, Shir Toubiana, Hilde Yttervik, et al.
NPJ Digital Medicine
|
March 29, 2025
Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening
Yuval Yaron, Vered Ofen Glassner, Michal Berkenstadt, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2006
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene
Hagit Baris, Bassem A Bejjani, Wen-Hann Tan, et al.
Journal of Medical Genetics
|
March 13, 2019
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype
Tamar Paperna, Nitzan Sharon-Shwartzman, Alina Kurolap, et al.
Orphanet Journal of Rare Diseases
|
February 11, 2025
The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition
Leighann Litcher-Kelly, Ahmet Ozen, Sarah Ollis, et al.
Gastroenterology
|
March 1, 2017
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance
Sari Lieberman, Tom Walsh, Menachem Schechter, et al.
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of 10
Search research articles
Search
Showing results (51-60 of 96) with videos related to
Sort By:
Page
of 10
Journal of Medical Genetics
|
February 24, 2021
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Melyssa Aronson, Chrystelle Colas, Andrew Shuen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 2, 2023
Utility of genetic testing in children with leukodystrophy
Ayelet Zerem, Stephanie Libzon, Liat Ben Sira, et al.
Harefuah
|
July 2, 2023
[GENOTYPE-PHENOTYPE CORRELATIONS BY SPECIFIC FOUNDER VARIANTS IN BRCA IN ISRAELI WOMEN]
Rachel Michaelson-Cohen, Yael Laitman, Inbal Kedar, et al.
Orphanet Journal of Rare Diseases
|
August 8, 2024
Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessments
Leighann Litcher-Kelly, Ahmet Ozen, Sarah Ollis, et al.
Journal of Human Genetics
|
May 13, 2021
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function
Nadra Samra, Shir Toubiana, Hilde Yttervik, et al.
NPJ Digital Medicine
|
March 29, 2025
Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening
Yuval Yaron, Vered Ofen Glassner, Michal Berkenstadt, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2006
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene
Hagit Baris, Bassem A Bejjani, Wen-Hann Tan, et al.
Journal of Medical Genetics
|
March 13, 2019
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype
Tamar Paperna, Nitzan Sharon-Shwartzman, Alina Kurolap, et al.
Orphanet Journal of Rare Diseases
|
February 11, 2025
The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition
Leighann Litcher-Kelly, Ahmet Ozen, Sarah Ollis, et al.
Gastroenterology
|
March 1, 2017
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance
Sari Lieberman, Tom Walsh, Menachem Schechter, et al.
Page
of 10