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The Yale journal of biology and medicine, 09/2017, Volume 90, Issue 3, p. 417
For many lethal or debilitating genetic disorders in patients there are no satisfactory therapies. Several barriers exist that hinder the developments of... 
Cats | Animals | Swine | Humans | Dogs | Genetic Diseases, Inborn | Sheep | Rare Diseases | Disease Models, Animal
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2018, Volume 13, Issue 5, p. e0197068
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 2014, Volume 121, Issue 1, pp. 392 - 398
Purpose To report a new ocular manifestation of the dup22q11 syndrome and explore involved genes that may offer insight to mechanisms of pathogenesis. Design... 
Ophthalmology | MENTAL-RETARDATION | GENOMIC DISORDERS | PROTEIN-KINASE INHIBITOR | DUPLICATION SYNDROME | CLINICAL VARIABILITY | OPHTHALMOLOGY | TANDEM DUPLICATION | CAT-EYE SYNDROME | DELETION SYNDROME | GROWTH-FACTOR-I | COGNITIVE DEFICITS | Retinal Diseases - genetics | Blepharoptosis - genetics | Humans | Qb-SNARE Proteins - genetics | Male | Chromosome Duplication - genetics | Nervous System Diseases - genetics | Nervous System Diseases - diagnosis | Retinal Vessels - pathology | Chromosomes, Human, Pair 22 - genetics | Heart Defects, Congenital - genetics | Microarray Analysis | Mitogen-Activated Protein Kinase 1 - genetics | Jaw Abnormalities - diagnosis | Duane Retraction Syndrome - genetics | Child | Abnormalities, Multiple - genetics | DiGeorge Syndrome - genetics | Duane Retraction Syndrome - diagnosis | Retinal Diseases - diagnosis | Intraocular Pressure | Claudin-5 - genetics | Blepharoptosis - diagnosis | Glaucoma - diagnosis | Reflex, Abnormal - genetics | DiGeorge Syndrome - diagnosis | Comparative Genomic Hybridization | Abnormalities, Multiple - diagnosis | Chromosome Aberrations | Qc-SNARE Proteins - genetics | Heart Defects, Congenital - diagnosis | Polymorphism, Single Nucleotide | Glaucoma - genetics | Jaw Abnormalities - genetics | Glaucoma | Medicine, Experimental | Medical research | Single nucleotide polymorphisms
Journal Article