Results 241 to 250 of about 202,059 (264)
Some of the next articles are maybe not open access.

A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

Current Issues in Molecular Biology, 2023
Vincenzo Visco   +2 more
exaly  

Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort

Frontiers in Oncology, 2022
Chu Nguyen, Minh-Duy Phan, Lan N Tu
exaly  

Advancing missense variant pathogenicity prediction

Nature Biotechnology, 2023
openaire   +2 more sources

Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant

Pediatric Nephrology, 2021
Kayo Nakata   +2 more
exaly  

Identification of a Novel Pathogenic Rearrangement Variant of the APC Gene Associated with a Variable Spectrum of Familial Cancer

Diagnostics, 2021
Maria Lourdes Garza-Rodríguez   +2 more
exaly  

Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))

Diagnostics, 2021
Gaetano Pietro Bulfamante   +2 more
exaly  

Variant pathogenicity prediction

2017
Dominik Seelow, Peter Robinson
openaire   +1 more source

A Pathogenic Variant Reclassified to the Pseudogene PMS2P1 in a Patient with Suspected Hereditary Cancer

International Journal of Molecular Sciences, 2023
David Isla-Ortiz   +2 more
exaly  

Germline DICER1 variants and thyroblastoma: caution is needed in classifying variants as likely pathogenic or pathogenic

Virchows Archiv
Dylan, Pelletier, William D, Foulkes
openaire   +2 more sources

Case Report: Novel Pathogenic Variant Detected in Two Siblings with Type 1 Gaucher Disease

Endocrine, Metabolic and Immune Disorders - Drug Targets, 2023
Kubra Metli   +2 more
exaly  
medicine
genetics
brca1
whole-exome sequencing
previous   23  24  25  26  27  

Home - About - Disclaimer - Privacy