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 › TableS5
The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.
Bachetti T et al.
International Journal of Molecular Sciences, 2021
33917126 (PubMed )
Supplement: ijms-22-03831-s001.zip › TableS1_IJMS_Lantieri.xlsx › Sheet1
An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt.
Peretz H et al.
Jimd Reports, 2020
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Bujakowska KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27735924 (PubMed )
Supplement: NIHMS819557-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
[Type 1 xanthinuria: Report on three cases].
Diss M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2015
Select a paper to view details