Found: 22
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Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
- Published in:
- Human Genetics, 2003, v. 113, n. 6, p. 502, doi. 10.1007/s00439-003-0998-1
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- Publication type:
- Article
Ocular manifestations as key features for diagnosing mucopolysaccharidoses.
- Published in:
- 2011
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- Publication type:
- Journal Article
Ocular manifestations as key features for diagnosing mucopolysaccharidoses.
- Published in:
- Rheumatology, 2011, v. 50, n. suppl_5, p. v34, doi. 10.1093/rheumatology/ker392
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- Publication type:
- Article
Paroxysmal Facial Itch: A Presenting Sign of Childhood Brainstem Glioma.
- Published in:
- Journal of Child Neurology, 1988, v. 3, n. 3, p. 189, doi. 10.1177/088307388800300308
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- Publication type:
- Article
Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis.
- Published in:
- Acta Ophthalmologica (1755375X), 2012, v. 90, n. 7, p. 595, doi. 10.1111/j.1755-3768.2011.02280.x
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- Publication type:
- Article
Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial.
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- Clinical & Experimental Ophthalmology, 2014, v. 42, n. 8, p. 713, doi. 10.1111/ceo.12325
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- Publication type:
- Article
Systemic therapies for mucopolysaccharidosis: ocular changes following haematopoietic stem cell transplantation or enzyme replacement therapy – a review.
- Published in:
- Clinical & Experimental Ophthalmology, 2010, v. 38, p. 34, doi. 10.1111/j.1442-9071.2010.02366.x
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- Publication type:
- Article
Visual Development During the Second Decade of Life in Albinism.
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- Journal of Pediatric Ophthalmology & Strabismus, 2018, v. 55, n. 4, p. 254, doi. 10.3928/01913913-20180327-02
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- Publication type:
- Article
Reading Skills in Children and Adults With Albinism: The Role of Visual Impairment.
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- Journal of Pediatric Ophthalmology & Strabismus, 2012, v. 49, n. 3, p. 184, doi. 10.3928/01913913-20111101-03
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- Publication type:
- Article
CME Activity.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2012, v. 49, n. 2, p. 80, doi. 10.3928/01913913-20120308-02
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- Publication type:
- Article
Change in Visual Acuity in Albinism in the Early School Years.
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- Journal of Pediatric Ophthalmology & Strabismus, 2012, v. 49, n. 2, p. 81, doi. 10.3928/01913913-20110628-02
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- Publication type:
- Article
USE OF A DRIVING SIMULATOR TO ASSESS PERFORMANCE UNDER ADVERSE WEATHER CONDITIONS IN ADULTS WITH ALBINISM.
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- Perceptual & Motor Skills, 2012, v. 114, n. 2, p. 679, doi. 10.2466/13.24.27.PMS.114.2.679-692
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- Publication type:
- Article
Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons.
- Published in:
- Electrophoresis, 1994, v. 15, n. 1, p. 159, doi. 10.1002/elps.1150150127
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- Publication type:
- Article
Cover Image, Volume 179A, Number 1, January 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. i, doi. 10.1002/ajmg.a.61048
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- Publication type:
- Article
An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 94, doi. 10.1002/ajmg.a.60687
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- Publication type:
- Article
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1342, doi. 10.1002/ajmg.a.38110
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- Publication type:
- Article
Pediatric Diagnoses You Don't Want to Miss.
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- Focal Points, 2012, v. 30, n. 3, p. 1
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- Publication type:
- Article
Pediatric Glaucoma.
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- Focal Points, 2012, v. 30, n. 1, p. 1
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- Publication type:
- Article
Positive Angle Kappa: A Possible Sign of Aniridia.
- Published in:
- American Orthoptic Journal, 2012, v. 62, n. 1, p. 70, doi. 10.3368/aoj.62.1.70
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- Publication type:
- Article
Exotropia Treatment: Does Age Matter?
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- American Orthoptic Journal, 2009, v. 59, p. 14, doi. 10.3368/aoj.59.1.14
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- Publication type:
- Article
Causes of Abnormal Refractive Errors in Children.
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- American Orthoptic Journal, 2006, v. 56, p. 108, doi. 10.3368/aoj.56.1.108
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- Publication type:
- Article
The Prevalence of Attention-Deficit/Hyperactivity Disorder Among Persons With Albinism.
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- Journal of Child Neurology, 2007, v. 22, n. 12, p. 1342, doi. 10.1177/0883073807307078
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- Publication type:
- Article