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2008, ISBN 9781556428395, xix, 295
Book
2014, Eye and vision research developments, ISBN 9781604561623
Web Resource
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 04/2017, Volume 12, Issue 1, pp. 69 - 11
Background: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism... 
Abnormality of retinal pigmentation | Autoimmunity | Caregivers | Anorexia | Respiratory insufficiency | Behavioral abnormality | Muscular hypotonia | Thin vermilion border | Dehydration | Microcephaly | Best practices | Cafe-au-lait spot | Abnormality of the retina | Osteoporosis | Intellectual disability | Respiratory failure | Ring14 syndrome | Scoliosis | Dysphagia | Constipation | Hypertelorism | Focal seizures with impairment of consciousness or awareness | Osteopenia | Downslanted palpebral fissures | Strabismus | Aspiration | Milia | Blepharophimosis | Growth delay | Celiac disease | Abnormality of the corpus callosum | Abnormality of the immune system | Autistic behavior | Stereotypy | Astigmatism | Increased body weight | Microphthalmia | Recurrent upper respiratory tract infections | Glaucoma | Pneumonia | Absent speech | Global developmental delay | Optic neuropathy | Hyperactivity | Myopia | Short stature | Abnormality of vision | Arthritis | Abnormality of the eye | Epicanthus | Recommendations | Underdeveloped supraorbital ridges | Feeding difficulties | Pain | Encephalopathy | Recurrent infections | Respiratory tract infection | Malnutrition | Status epilepticus | Seizures | Cataract | Aggressive behavior | Myoclonus | Flexion contracture | Ventriculomegaly | Brain atrophy | Coloboma | Full cheeks | Hearing impairment | Fever | Abnormality of skin pigmentation | Abnormality of the face | Autism | Diaphragmatic weakness | Facial asymmetry | Recurrent pneumonia | Horizontal eyebrow | Retinal degeneration | Focal seizures | Large forehead | Pallor | MEDICINE, RESEARCH & EXPERIMENTAL | COMPLEX PARTIAL SEIZURES | INSTABILITY | 14-CHROMOSOME | CHROMOSOME 14 SYNDROME | DEVELOPMENTAL DELAY | MECHANISMS | TERMINAL DELETIONS | PARTIAL EPILEPSY | GENETICS & HEREDITY | PATIENT | MOSAICISM | Autism Spectrum Disorder - genetics | Humans | Cytogenetics | Ring Chromosomes | Chromosome Disorders - genetics | Chromosomes, Human, Pair 14 - genetics | Intellectual disabilities | Epilepsy | Chromosome deletion | Single-nucleotide polymorphism | Gene expression | Medical diagnosis | Patients | Feeding | Genotype & phenotype | Clonal deletion | Epigenetics | Children | Chromosome 14 | Autonomy | Books | Chromosomes
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2016, Volume 94, Issue S256, p. n/a
Terrien marginal degeneration is a rare idiopathic form of corneal degeneration that affects peripheral cornea, it occurs at any age and 75% of patients are... 
Physiological aspects | Lipids | Ophthalmology | Cornea | Perforation | Stroma | Visual acuity | Spectra | Anatomy | Males | Patients | Trauma | Endothelium | Vascularization | Acuity | Eye | Topographic maps | Maps | Optical Coherence Tomography | Thinning | Topography | Degeneration | Diagnosis | Irritation | Astigmatism
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 02/2013, Volume 54, Issue 2, pp. 1384 - 1391
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 08/2018, Volume 19, Issue 1, pp. 155 - 7
Journal Article
Contact Lens & Anterior Eye, ISSN 1367-0484, 2015, Volume 38, Issue 5, pp. 357 - 362
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/1999, Volume 36, Issue 6, pp. 437 - 446
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental... 
Heterozygotes | Renal malformation | Bardet-Biedl syndrome | Diagnosis | OBESITY | FAMILIES | GENETICS & HEREDITY | PHENOTYPE | diagnosis | heterozygotes | RENAL-DISEASE | renal malformation | LINKAGE | SYNDROME LOCUS | Cataracts | Obesity | Congenital diseases | Intellectual disabilities | Mortality | Cardiovascular disease | Males | Patients | Cysts | Questionnaires | Speech | Ataxia | Learning disabilities | Society | Diabetes | Age | Astigmatism
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 12/2013, Volume 97, Issue 12, pp. 1554 - 1559
Journal Article