Associated Papers
Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.
Gheorghe AM et al.
International Journal of Molecular Sciences, 2024
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
Domains and residues of the Saccharomyces cerevisiae hnRNP protein Hrp1 important for transcriptional autoregulation and noncoding RNA termination.
Goguen EC et al.
Genetics, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Predicting the functional consequences of genetic variants in co-stimulatory ligand B7-1 using in-silico approaches.
Mathur R et al.
Human Immunology, 2021
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
Antioxidants & Redox Signaling, 2020
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Piton A et al.
Molecular Psychiatry, 2011
Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.
Almqvist J et al.
Biochemistry, 2004
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Urbán Z et al.
Human Genetics, 2000
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