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