Associated Papers
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
41659036 (PubMed )
Supplement: DataSheet1.pdf
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
39565987 (PubMed )
Supplement: nejmoa2314768_appendix.pdf
Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population.
Liu X et al.
Ginekologia Polska, 2024
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard.
Kirk EP et al.
Journal of Inherited Metabolic Disease, 2022
Estimation of hereditary fructose intolerance prevalence in the Chinese population.
Tang M et al.
Orphanet Journal of Rare Diseases, 2022
Epidemiological aspects of hereditary fructose intolerance: A database study.
Pinheiro FC et al.
Human Mutation, 2021
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
Esposito G et al.
Human Mutation, 2010
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