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 NGS, Ophthalmology ENDGF400 Congenital cataracts: gene panel Learn more By Mario Fonte 0
August 12, 2020 Ophthalmology, Other methodologies ENDGF403 Early-onset glaucoma: MYOC gene Learn more By Mario Fonte 0
August 12, 2020 Ophthalmology, Other methodologies ENDGF399 Gyrate atrophy of choroid and retina with or without ornithinemia: OAT gene Learn more By Mario Fonte 0
August 12, 2020 Ophthalmology, Other methodologies ENDGF411 LHON syndrome – Leber hereditary optic atrophy: MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A), MT-ND6 (m.14484T>C) genes – familial case Learn more By Mario Fonte 0
August 12, 2020 Ophthalmology, Other methodologies ENDGF410 LHON syndrome – Leber hereditary optic atrophy: MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A), MT-ND6 (m.14484T>C) genes – index case Learn more By Mario Fonte 0
August 12, 2020 Ophthalmology, Other methodologies ENDGF406 Premature retinopathy (Norrie disease): NDP gene – familial case Learn more By Mario Fonte 0
August 12, 2020 Ophthalmology, Other methodologies ENDGF405 Premature retinopathy (Norrie disease): NDP gene – index case Learn more By Mario Fonte 0
August 12, 2020 Ophthalmology, Other methodologies ENDGF402 Primary congenital glaucoma: CYP1B1 gene Learn more By Mario Fonte 0
August 12, 2020 NGS, Ophthalmology ENDGF404 Progressive external ophthalmoplegia: gene panel Learn more By Mario Fonte 0
