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 Other methodologies, Pediatrics ENDGF500 Alagille syndrome: JAG1 gene Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Ophthalmology, Other methodologies, Other methodologies, Other methodologies, Other methodologies, Otorhinolaryngology, Pediatrics ENDGF473 Alström syndrome: ALMS1 gene Learn more By Mario Fonte 0
August 12, 2020 Other methodologies, Pediatrics ENDGF501 Apert syndrome: FGFR2 gene Learn more By Mario Fonte 0
August 12, 2020 Other methodologies, Pediatrics ENDGF502 Bardet-Biedl syndrome: TMEM67 gene Learn more By Mario Fonte 0
August 12, 2020 Other methodologies, Pediatrics ENDGF488 Bone dysplasia: FGFR3 gene Learn more By Mario Fonte 0
September 24, 2020 Cardiology, Dermatology, Endocrinology, Oncology, Other methodologies, Other methodologies, Other methodologies, Other methodologies, Other methodologies, Pediatrics ENDGF545 Carney complex: gene PRKAR1A Learn more By Mario Fonte 0
