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Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1221 - 1232
ABSTRACT Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with... 
calcium homeostasis | stromal interaction molecule 1 (STIM1) | Stormorken syndrome | miosis | tubular aggregate myopathy | Stromal interaction molecule 1 (STIM1) | Miosis | Tubular aggregate myopathy | Calcium homeostasis | BLEEDING TENDENCY | THROMBOCYTOPATHIA | ENTRY | HYPERORNITHINEMIA | tubular aggregate mypathy | PHOSPHOGLYCERATE MUTASE DEFICIENCY | MYOPATHY | GYRATE ATROPHY | HEREDITARY SYNDROME | SKELETAL-MUSCLE | GENETICS & HEREDITY | EXTREME MIOSIS | Calcium Channels - metabolism | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Middle Aged | Child, Preschool | Dyslexia - pathology | Endoplasmic Reticulum - metabolism | Infant | Male | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Endoplasmic Reticulum - ultrastructure | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | Migraine Disorders - pathology | Ichthyosis - genetics | Adult | Female | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Spleen - pathology | Child | Infant, Newborn | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Protein Structure, Secondary | Membrane Proteins - genetics | Neoplasm Proteins - chemistry | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Erythrocytes, Abnormal - pathology | Membrane Proteins - chemistry | Migraine Disorders - genetics | Spleen - metabolism | Miosis - pathology | Pedigree | Adolescent | Muscle Fibers, Skeletal - pathology | Muscle Fatigue - genetics | Aged | Miosis - metabolism | Blood Platelet Disorders - metabolism | Blood Platelet Disorders - pathology | Genetic research | Genetics | Genetic aspects | Medical examination | Blood | Medical research | Genotype & phenotype | Genetic disorders | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 971 - 980
Journal Article
La Revue du praticien, ISSN 0035-2640, 01/2019, Volume 69, Issue 1, p. 67
Congenital aniridia in children. Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular disease). The disease is... 
Journal Article
Ophthalmic plastic and reconstructive surgery, ISSN 0740-9303, 06/2019, Volume 35, Issue 6, pp. 594 - 599
To study the CT appearance of the nasolacrimal canal (NLC) in cases of congenital nasolacrimal duct obstruction (CNLDO) where there is a tactile sensation of a... 
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 11/2019, p. bjophthalmol-2019-314989
IntroductionOphthalmological involvement in anterior plagiocephaly (AP) due to unicoronal synostosis (UCS) raises management challenges. Two abnormalities of... 
Journal Article
Ophthalmic plastic and reconstructive surgery, ISSN 0740-9303, 01/2019, Volume 35, Issue 1, pp. e23 - e24
The authors report the case of a 7-year old child with failed probing with stent intubation, who was found to have an unusual curvature of the nasolacrimal... 
SURGERY | OPHTHALMOLOGY | Case studies | Dacryocystitis | Diagnosis
Journal Article
Expert Opinion on Investigational Drugs, ISSN 1354-3784, 11/2019, Volume 28, Issue 11, pp. 1013 - 1020
Introduction: Corneal ulcers normally resolve spontaneously because of the proliferative ability of the corneal epithelium; however, sometimes, epithelial... 
treatment | cenegermin | RGTA | Cacicol | oxervate | corneal ulcer | neurotrophic keratopathy
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 10/2017, Volume 135, Issue 10, p. 1100
Importance Temporal macular involvement in sickle cell disease can now easily be detected by optical coherence tomography (OCT). However, while recent studies... 
Medical imaging | Angiography | Retina | Horizontal cells | Eyes & eyesight | Visual perception | Acuity | Atrophy | Vascular diseases | Color vision | Maps | Thinning | Vision | Retinal degeneration | Ophthalmology | Children | Sickle cell disease
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 10/2009, Volume 50, Issue 10, pp. 4678 - 4684
Journal Article
Medecine Therapeutique Pediatrie, ISSN 1286-5494, 01/2015, Volume 18, Issue 1, pp. 11 - 13
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 07/2019, Volume 103, Issue 7, pp. 906 - 910
Background/aimsInitially reported in a few patients with homozygous sickle cell disease (SCD), atrophic areas of the retina temporal from the macula are now... 
child health (paediatrics) | retina | macula | PATHOGENESIS | OPTICAL COHERENCE TOMOGRAPHY | OPHTHALMOLOGY | RETINOPATHY | CEREBRAL VASCULOPATHY | CHILDREN
Journal Article
Current Medical Research and Opinion, ISSN 0300-7995, 08/2018, Volume 34, Issue 8, pp. 1373 - 1376
Objective: To describe a post hoc analysis comparing the effect of a hyaluronic acid (HA)-trehalose solution to an established eyedrop solution containing HA... 
Bioprotection | trehalose | dry eye | ocular surface disease index | hyaluronic acid | MEDICINE, RESEARCH & EXPERIMENTAL | MEDICINE, GENERAL & INTERNAL | MANAGEMENT | EFFICACY | PROTECTS
Journal Article
Ophthalmology, ISSN 0161-6420, 09/2018, Volume 125, Issue 9, pp. 1353 - 1353
Journal Article
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