subject area of
- 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients Academic Article
- Autism Spectrum Disorders and Epigenetics Academic Article
- Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: A new case and review of the literature Academic Article
- Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism Academic Article
- Familial Evans Syndrome Academic Article
- Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes Academic Article
- Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation Academic Article
- OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome Academic Article
- PML/RARα APL with undifferentiated morphology and stem cell immunophenotype Academic Article
- Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq Academic Article
- Relative tumorigenicities of hybrid cells with and without hsr-bearing chromosomes from a human melanoma cell line Academic Article
- Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction Academic Article
- Secretory Breast Carcinoma: Unique, Triple-Negative Carcinoma With a Favorable Prognosis and Characteristic Molecular Expression Academic Article
- Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling Academic Article
- The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome Academic Article