Results 231 to 240 of about 202,059 (264)

Pathogenicity of the m.15043G>A variant

Journal of the Neurological Sciences, 2020
Ritwik, Ghosh, Souvik, Dubey, Subhankar, Chatterjee, Josef, Finsterer, Rakesh, Biswas, Durjoy, Lahiri, Biman Kanti, Ray   +6 more
openaire   +2 more sources

Predicting variant pathogenicity with AlphaMissense

Nature Reviews Genetics, 2023
openaire   +2 more sources

Uromodulin and CKD: insight into variant pathogenicity

Kidney International, 2023
Nora, Franceschini, Jonathan S, Berg
openaire   +2 more sources

Fucosidosis with Pathogenic Variant in FUCA1 Gene

The Indian Journal of Pediatrics, 2020
Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Hemadri Vegda, Maya Bhat   +3 more
openaire   +2 more sources

Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to BRCA Pathogenic Variant Carriers?

Cancers, 2022
Alexandra Benachi, Charlotte Sonigo, Dominique Stoppa-Lyonnet   +2 more
exaly  

Reducing body myopathy – A new pathogenic FHL1 variant and literature review

Neuromuscular Disorders, 2021
Carvalho Aas, Carolina Da Cunha-Correia, Isabella Araujo Mota   +2 more
exaly  

Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients

Cancers, 2022
Maija Suvanto, Anna Nurmi, Heli Nevanlinna   +2 more
exaly  

The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes

Mitochondrion, 2021
Giulia Amore, Michele Carbonelli, Alessia Catania   +2 more
exaly  

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG

International Journal of Molecular Sciences, 2022
Leda Torres, Pedro Vicente Reyes J, Ulises E Juárez-Figueroa   +2 more
exaly  

Response to Ovarian Stimulation for Urgent Fertility Preservation before Gonadotoxic Treatment in BRCA-Pathogenic-Variant-Positive Breast Cancer Patients

Cancers, 2023
Maeliss Peigné, Anne Mayeur, Michael Grynberg   +2 more
exaly