August 12, 2020 Endocrinology, Other methodologies ENDGF164 Albright’s hereditary osteodystrophy (Pseudohypoparathyroidism 1a): GNAS gene (sequencing + deletion/duplication analysis + methylation) Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, NGS, NGS, NGS, NGS, Ophthalmology, Otorhinolaryngology, Pediatrics ENDGF473 Alström syndrome: ALMS1 gene Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Other methodologies ENDGF168 Barakat syndrome: GATA3 gene Learn more By Mario Fonte 0
September 24, 2020 Cardiology, Dermatology, Endocrinology, NGS, NGS, NGS, NGS, NGS, Oncology, Pediatrics ENDGF545 Carney complex: gene PRKAR1A Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Other methodologies ENDGF149 Combined pituitary hormone deficiency: PROP1 gene Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Metabolic Diseases, NGS, NGS ENDGF141 Familial dyslipidemia / hypercholesterolemia: gene panel Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Nephrology, Other methodologies, Other methodologies ENDGF152 Familial hypocalciuric hypercalcemia / Neonatal severe hyperparathyroidism: CASR gene – familial case Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Nephrology, Other methodologies, Other methodologies ENDGF151 Familial hypocalciuric hypercalcemia / Neonatal severe hyperparathyroidism: CASR gene – index case Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Metabolic Diseases, NGS, NGS ENDGF137 Glycogenoses: gene panel Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Metabolic Diseases, NGS, NGS ENDGF139 Hyperammonemia: CA5A, CPS1, NAGS, OTC genes Learn more By Mario Fonte 0
