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Journal of Medical Genetics
|
December 12, 2018
Breast cancer risk in neurofibromatosis type 1 is a function of the type of <i>NF1</i> gene mutation: a new genotype-phenotype correlation
Ian M Frayling, Victor-Felix Mautner, Rick van Minkelen, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
June 11, 2024
Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults
Anirban Das, Suzanne P MacFarland, Julia Meade, et al.
Cancer Discovery
|
March 27, 2023
Early Infiltration of Innate Immune Cells to the Liver Depletes HNF4α and Promotes Extrahepatic Carcinogenesis
Omer Goldman, Lital N Adler, Emma Hajaj, et al.
Nature Medicine
|
June 15, 2021
Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2-mRNA-vaccinated individuals
Talia Kustin, Noam Harel, Uriah Finkel, et al.
Cancer Research
|
July 14, 2026
PDE5a Inhibition Restricts Cancer Metastasis by Disrupting NPC1-Mediated Cholesterol Trafficking Through a Non-canonical cGMP-Dependent Pathway
Yarden Ariav, Samah Hayek, Thomas Cantore, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
February 11, 2014
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1
Anthony J Bleyer, Stanislav Kmoch, Corinne Antignac, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2019
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics
Katherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, et al.
Acta Neuropathologica
|
July 8, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, et al.
Nature Communications
|
June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Katie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Human Molecular Genetics
|
January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Eunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
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Search research articles
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Showing results (81-90 of 96) with videos related to
Sort By:
Page
of 10
Journal of Medical Genetics
|
December 12, 2018
Breast cancer risk in neurofibromatosis type 1 is a function of the type of <i>NF1</i> gene mutation: a new genotype-phenotype correlation
Ian M Frayling, Victor-Felix Mautner, Rick van Minkelen, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
June 11, 2024
Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults
Anirban Das, Suzanne P MacFarland, Julia Meade, et al.
Cancer Discovery
|
March 27, 2023
Early Infiltration of Innate Immune Cells to the Liver Depletes HNF4α and Promotes Extrahepatic Carcinogenesis
Omer Goldman, Lital N Adler, Emma Hajaj, et al.
Nature Medicine
|
June 15, 2021
Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2-mRNA-vaccinated individuals
Talia Kustin, Noam Harel, Uriah Finkel, et al.
Cancer Research
|
July 14, 2026
PDE5a Inhibition Restricts Cancer Metastasis by Disrupting NPC1-Mediated Cholesterol Trafficking Through a Non-canonical cGMP-Dependent Pathway
Yarden Ariav, Samah Hayek, Thomas Cantore, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
February 11, 2014
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1
Anthony J Bleyer, Stanislav Kmoch, Corinne Antignac, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2019
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics
Katherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, et al.
Acta Neuropathologica
|
July 8, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, et al.
Nature Communications
|
June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Katie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Human Molecular Genetics
|
January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Eunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
Page
of 10