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Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
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The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
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Septo-optic dysplasia with fovea plana: A case report.
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Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy.
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Ophthalmologic Findings in Fetal Alcohol Spectrum Disorders - A Cohort Study From Childhood to Adulthood.
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
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Long-term postnatal outcomes of fetuses with prenatally suspected septo-optic dysplasia.
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Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.
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Fetal Ultrasound and Magnetic Resonance Imaging Findings in Suspected Septo-Optic Dysplasia: A Diagnostic Dilemma.
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Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders.
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Orbital MRI versus fundus photography in the diagnosis of optic nerve hypoplasia and prediction of vision.
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Squalene Synthase Deficiency
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Direct OPTOS Nerve Size Determination of Prevalent Optic Nerve Hypoplasia in Alaska.
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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
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Optic nerve hypoplasia in miniature poodle dogs: A preliminary genetic and candidate gene association study.
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22 |
Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.
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Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism.
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Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.
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Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic.
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26 |
Septo-optic dysplasia with amniotic band syndrome sequence: a case report.
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Optic Nerve Hypoplasia in the Eye and Beyond.
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Relationship between refractive correction, visual symptoms, and optical device selection for low-vision patients in Taiwan.
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FEVR phenotype associated with septo-optic dysplasia.
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Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation.
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High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia.
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Septo-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts.
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AN UNEXPECTED COMBINATION OF PROLACTINOMA AND SEPTO-OPTIC DYSPLASIA.
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Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia.
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Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity.
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Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma.
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Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.
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Pediatric optic nerve and optic nerve sheath diameter on magnetic resonance imaging.
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A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations.
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Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.
61
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Smartphone-Based, Rapid, Wide-Field Fundus Photography for Diagnosis of Pediatric Retinal Diseases.
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Amelanotic Ciliochoroidal Melanoma in a Patient with Oculocutaneous Albinism.
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Causes of childhood low vision and blindness in New Zealand.
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Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development.
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45 |
Optical Coherence Tomography Angiography Findings in Superior Segmental Optic Nerve Hypoplasia.
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46 |
Hypernatremia in a Sleepy 2-Month-Old With Mention of Abnormal Eye Movements.
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Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives.
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Prospective observational study of universal newborn eye screening in a hospital and community setting in New Zealand.
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Optic Nerve Hypoplasia: A Retrospective Analysis of Clinical Presentation and Disease Severity.
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Prevalence of the optic disc anomalies in the adult South Indian population.
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2019 |