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Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 09/2016, Volume 6, Issue 1, p. 33920
Familial renal glycosuria (FRG) is caused by mutations in the SLC5A2 gene, which codes for Na+-glucose co-transporters 2 (SGLT2). The aim of this study was to... 
PATIENT | SPLICING MUTATIONS | SGLT2 | MULTIDISCIPLINARY SCIENCES | Polymerase chain reaction | Missense mutation | Kidneys | Splicing | Clonal deletion | Transcription | Plasmids | Mutation | Gene deletion | Kidney transplantation
Journal Article
Cellular Physiology and Biochemistry, ISSN 1015-8987, 12/2017, Volume 44, Issue 4, pp. 1559 - 1577
Journal Article
Journal Article
European journal of medical genetics, ISSN 1769-7212, 08/2019, pp. 103739 - 103739
The chromatin remodeling AT-Rich interaction domain containing 1B protein (ARID1B) also known as BAF-associated factor, 250-KD, B (BAF250B) codified by the... 
Index Medicus
Journal Article
Psychiatric Genetics, ISSN 0955-8829, 06/2019, Volume 29, Issue 3, pp. 86 - 90
About one child in 68 is affected by the autism spectrum disorder (ASD), one of the most common neurodevelopmental disorders linked to intellectual disability,... 
RARE | GENETICS & HEREDITY | autism spectrum disorder | 4q13.1 microduplication | NEUROSCIENCES | EPHA5 gene | COPY-NUMBER VARIATION | REVEALS
Journal Article
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 3/2015, Volume 30, Issue 4, pp. 500 - 504
The 3q27.3 microdeletion syndrome has been recently delineated in 7 subjects from 5 families sharing a 1.4 Mb smallest region of overlap. This condition... 
optic atrophy | haploinsufficiency | 3q27 | microdeletion | intellectual disability | Marfanoid habitus | METABOLIC SYNDROME | GENES | PEDIATRICS | CLINICAL NEUROLOGY | Chromosome Deletion | Chromosomes, Human, Pair 3 | Phenotype | Humans | Adolescent | Male | Syndrome
Journal Article
BMC Research Notes, ISSN 1756-0500, 2013, Volume 6, Issue 1, pp. 376 - 376
Journal Article