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ITALIAN JOURNAL OF PEDIATRICS, ISSN 1720-8424, 06/2019, Volume 45, Issue 1, pp. 72 - 72
BackgroundBardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is... 
CONTRIBUTOR | triallelic inheritance | ALLELES | VARIANTS | GENETICS | PHENOTYPE | PEDIATRICS | Bardet-Biedl syndrome | NGS | IDENTIFICATION | PROTEINS | Genetic diagnosis | Proteins | Genotype & phenotype | Phenotypes | Genes | Heredity | Mutation | Patients | Polygenic inheritance | Hypogonadism | Deoxyribonucleic acid--DNA | Genotypes | Hereditary diseases | Genetic diagnosis; triallelic inheritance
Journal Article
Journal of Cataract and Refractive Surgery, ISSN 0886-3350, 2010, Volume 36, Issue 10, pp. 1631 - 1636
We describe a variant of the big-bubble technique in deep anterior lamellar keratoplasty (DALK) assisted by the IntraLase femtosecond laser, which we call... 
Ophthalmology | SURGERY | OPHTHALMOLOGY | OUTCOMES | ZIGZAG INCISION | MECHANICAL MICROKERATOME | DESCEMETS-MEMBRANE | KERATOCONUS | Descemet Membrane - surgery | Lasers, Solid-State - therapeutic use | Corneal Transplantation - methods | Keratoconus - surgery | Humans | Laser Therapy | Lasers | Methods | Index Medicus
Journal Article
Orbit, ISSN 0167-6830, 07/2019, Volume 38, Issue 4, pp. 313 - 317
Purpose: To evaluate the surgical outcome of a frontalis sling using deep temporal fascia in the treatment of severe congenital ptosis (SCP). Methods: A... 
lid surgery | deep temporal fascia | Congenital ptosis | amblyopia | Index Medicus
Journal Article
Journal of AAPOS, ISSN 1091-8531, 10/2014, Volume 18, Issue 5, p. 516
Journal Article
Cornea, ISSN 0277-3740, 07/2019, Volume 38, Issue 7, pp. 859 - 863
PURPOSE:To compare 3-year iontophoretic transepithelial corneal cross-linking (I-ON CXL) outcomes with epithelium-off collagen cross-linking (epi-off CXL) in... 
RIBOFLAVIN | keratoconus | HUMAN CORNEA | epithelium-off corneal cross-linking | LIGHT | OPHTHALMOLOGY | ULTRAVIOLET | PROGRESSION | iontophoresis transepithelial corneal cross-linking | pediatric patients | Eye | Care and treatment | Keratoconus | Patient outcomes | Surgery | Pediatric research | Methods
Journal Article
Journal of Refractive Surgery, ISSN 1081-597X, 12/2015, Volume 31, Issue 12, pp. 830 - 834
PURPOSE: To describe the big-bubble full femtosecond laser-assisted (BBFF) technique, which could be helpful in standardizing the big-bubble technique in deep... 
SURGERY | OPHTHALMOLOGY | DESCEMETS-MEMBRANE | Corneal Transplantation - methods | Humans | Middle Aged | Male | Air | Corneal Surgery, Laser - methods | Keratoconus - surgery | Adolescent | Adult | Female | Cornea - physiopathology | Child | Visual Acuity - physiology | Keratoconus - physiopathology
Journal Article
Annali dell'Istituto Superiore di Sanità, ISSN 0021-2571, 09/2014, Volume 50, Issue 3, pp. 298 - 300
Purpose. To determine if the use of combined HLA matched limbal stem cells allograft with amniotic membrane transplantation (AMT) is a safe and effective... 
Health Care Sciences & Services
Journal Article
Journal of Ophthalmology, ISSN 2090-004X, 2012, Volume 2012, pp. 264590 - 4
Purpose. To report the 12-month follow-up after big-bubble deep anterior lamellar keratoplasty (DALK) assisted by femtosecond laser that we have called... 
MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | SURGICAL TECHNIQUE | MECHANICAL MICROKERATOME | DESCEMETS-MEMBRANE | Clinical Study
Journal Article
Journal of Ophthalmology, ISSN 2090-004X, 2017, Volume 2017, pp. 3080245 - 10
Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the... 
VASCULAR DEVELOPMENT | MEDICINE, RESEARCH & EXPERIMENTAL | FZD4 | LRP5 | OPHTHALMOLOGY | RETINAL ANGIOGENESIS | NORRIE DISEASE GENE | NDP | IDENTIFICATION | TSPAN12 | MISSENSE MUTATIONS | FRIZZLED-4 | Eye | Care and treatment | Usage | Medical examination | Genetic variation | Research | Diagnosis | Retinal diseases | Risk factors | Genetic screening
Journal Article
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