August 12, 2020 Endocrinology, Other methodologies ENDGF121 21-hydroxylase deficiency: CYP21A2 gene – familial case Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Other methodologies ENDGF120 21-hydroxylase deficiency: CYP21A2 gene – index case Learn more By Mario Fonte 0
August 12, 2020 Metabolic Diseases, Other methodologies ENDGF110 Abetalipoproteinemia: MTTP gene Learn more By Mario Fonte 0
August 12, 2020 Other methodologies, Pediatrics ENDGF480 Achondroplasia level I: FGFR3 gene (p.G380R) Learn more By Mario Fonte 0
August 12, 2020 Other methodologies, Pediatrics ENDGF481 Achondroplasia level II: FGFR3 gene (p.G380R and p.G375C) Learn more By Mario Fonte 0
September 24, 2020 Other methodologies, Pediatrics ENDGF543 Acrodysostosis: PRKAR1A gene Learn more By Mario Fonte 0
August 12, 2020 Other methodologies, Pediatrics ENDGF482 Acrodysostosis: PRKAR1A gene (exon 11) Learn more By Mario Fonte 0
August 12, 2020 Gastroenterology, Other methodologies ENDGF208 Acute intermittent porphyria: HMBS gene Learn more By Mario Fonte 0
August 12, 2020 Hemato-oncology, Hematology, NGS, NGS ENHO-BM2 Acute Myeloid Leukemia (AML): NGS gene panel Learn more By Mario Fonte 0
August 12, 2020 Medical Genetics, NGS ENDGF535 Additional NGS genes analysis, panels (>50 genes) Learn more By Mario Fonte 0
