Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13
Deciphering the Impact of Rare Missense Variants in EGFR-TKI-Resistant Non-Small-Cell Lung Cancer through Whole Exome Sequencing: A Computational Approach.
Balasundaram A et al.
Acs Omega, 2024
Genome-wide linkage analysis combined with genome sequencing in large families with intracranial aneurysms.
Bakker MK et al.
European Journal of Human Genetics : Ejhg, 2022
Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture.
Caso E et al.
Injury, 2016
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.
Seidel MG et al.
The Journal of Allergy and Clinical Immunology, 2015
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