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JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY, ISSN 1748-6815, 02/2019, Volume 72, Issue 2, pp. 339 - 340
Journal Article
Journal francais d'ophtalmologie, ISSN 0181-5512, 05/2019, Volume 42, Issue 7, pp. E319 - E324
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 5628 - 11
Retinitis pigmentosa (RP) is a common phenotype in multiple inherited retinal dystrophies (IRD). Disease gene identification can assist the clinical diagnosis... 
LONG ISOFORM | HEARING IMPAIRMENT | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | SYNDROME TYPE-II | DEAFNESS | PREVALENCE | USH2A protein | Phenotypes | Missense mutation | Retinitis pigmentosa | Retina | Retinitis | Diagnosis | Mutation | Patients
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 02/2018, Volume 35, Issue 1, pp. 81 - 83
Journal Article
Clinical Biochemistry, ISSN 0009-9120, 09/2019, Volume 71, pp. 67 - 68
Two Chinese female infants from two unrelated families were diagnosed with Crigler-Najjar syndromes-I (CNS-I) and CNS-II respectively. The CNS-I patient had... 
Microdeletion | Hyperbilirubinemia | Compound heterozygous | Crigler-Najjar syndrome type II (CNS-II) | Crigler-Najjar syndrome type I (CNS-I) | MUTATIONS | MEDICAL LABORATORY TECHNOLOGY | Index Medicus
Journal Article
Eye (Basingstoke), ISSN 0950-222X, 10/2018, Volume 32, Issue 10, pp. 1608 - 1614
Objectives USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without... 
OPHTHALMOLOGY | LOCALIZATION | SYNDROME TYPE-II | CHROMOSOME-1Q | ISOFORM | USH2A protein | Retinitis pigmentosa | Retina | Retinitis | Mutation | Inner ear | Genetic screening | Membrane proteins | Hearing loss | Index Medicus
Journal Article
Journal Article
Archivos Argentinos de Pediatria, ISSN 0325-0075, 12/2016, Volume 114, Issue 6, pp. e403 - e407
Journal Article
International Journal of Cardiology, ISSN 0167-5273, 01/2019, Volume 275, pp. 136 - 144
Introduction: We investigated the effects of human amniotic fluid stem cells (hAFS) and rat adipose tissue stromal vascular fraction GFP-positive cells... 
NGAL | Congestive heart failure | Remodeling | Cardiorenal syndrome type II | Stem cells | APOPTOSIS | ACTIVATION | CARDIAC & CARDIOVASCULAR SYSTEMS | CONSENSUS CONFERENCE | INJURY | FAILURE | RENAL DYSFUNCTION | SKELETAL-MUSCLE | L-CARNITINE | THERAPY | PARACRINE | Heart failure | Prevention | Transplantation | Analysis | Index Medicus
Journal Article
Journal Article
Archivos Argentinos de Pediatria, ISSN 0325-0075, 08/2016, Volume 114, Issue 4, pp. e228 - e232
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 06/2016, Volume 33, Issue 3, pp. 328 - 331
Journal Article