Found: 21
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Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Spectrum of MRI findings in 58 patients with methanol intoxication: Long-term visual and neurological correlation.
- Published in:
- Egyptian Journal of Radiology & Nuclear Medicine, 2016, v. 47, n. 3, p. 1049, doi. 10.1016/j.ejrnm.2016.06.011
- By:
- Publication type:
- Article
Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
New Findings in a Global Approach to Dissect the Whole Phenotype of <i>PLA2G6</i> Gene Mutations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076831
- By:
- Publication type:
- Article
A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1207, doi. 10.1002/ajmg.a.35850
- By:
- Publication type:
- Article
The neurology of carbonic anhydrase type II deficiency syndrome.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3499, doi. 10.1093/brain/awr302
- By:
- Publication type:
- Article
Choroid plexus papilloma metastases to both cerebellopontine angles mimicking neurofibromatosis type 2.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 31, doi. 10.1186/1471-2350-12-31
- By:
- Publication type:
- Article
A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotypecorrelation.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Carotid Cavernous Fistula: Ophthalmological Implications.
- Published in:
- Middle East African Journal of Ophthalmology, 2009, v. 16, n. 2, p. 57, doi. 10.4103/0974-9233.53862
- By:
- Publication type:
- Article
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 9, p. 2363, doi. 10.1093/brain/awl161
- By:
- Publication type:
- Article
Detection of Mitochondrial Respiratory Dysfunction in Circulating Lymphocytes Using Resazurin.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2005, v. 129, n. 10, p. 1295, doi. 10.5858/2005-129-1295-domrdi
- By:
- Publication type:
- Article
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
- Published in:
- Nature Genetics, 2005, v. 37, n. 10, p. 1035, doi. 10.1038/ng1636
- By:
- Publication type:
- Article
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 315, doi. 10.1038/ng744
- By:
- Publication type:
- Article
Hemifacial spasm: evaluation by magnetic resonance imaging and magnetic resonance tomographic angiography.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Middle cerebral artery strokes causing homonymous hemianopia: positron emission tomography.
- Published in:
- 1990
- By:
- Publication type:
- journal article
Divisional oculomotor nerve paresis caused by intrinsic brainstem disease.
- Published in:
- Annals of Neurology, 1989, v. 26, n. 6, p. 714, doi. 10.1002/ana.410260605
- By:
- Publication type:
- Article
Intermittent obstructive hydrocephalus in the Arnold-Chiari malformation.
- Published in:
- Annals of Neurology, 1989, v. 26, n. 3, p. 401, doi. 10.1002/ana.410260317
- By:
- Publication type:
- Article
Alternating skew on lateral gaze (Bilateral abducting hypertropia).
- Published in:
- Annals of Neurology, 1988, v. 23, n. 2, p. 190, doi. 10.1002/ana.410230213
- By:
- Publication type:
- Article
Recovery of vision after ischemic lesions: positron emission tomography.
- Published in:
- 1987
- By:
- Publication type:
- journal article
Electrophysiologic evidence of subclinical injury to the posterior columns of the human spinal cord after therapeutic radiation.
- Published in:
- 1982
- By:
- Publication type:
- journal article