Associated Papers
The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children.
Abu-El-Haija M et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ et al.
European Journal of Human Genetics : Ejhg, 2024
38778082 (PubMed )
Supplement: 41431_2024_1629_MOESM2_ESM.xlsx › B-II-1
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Hadjipanteli A et al.
Genes, 2024
38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Transcripts
Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss.
Clay S et al.
Frontiers in Pediatrics, 2024
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
Gallo V et al.
Frontiers in Immunology, 2016
Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan.
Masamune A et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 0
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