“…CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Third, the HIF and other novel drug-related health policies can afford to be more radical, e.g. working outside the existing intellectual property rights regime, targeting generic as well as branded drugs, or extending to research and development. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…We initially provide a knowledge update about the etiology, epidemiology, and prognosis of PNES—in adults and in special patient groups, such as children, older adults, and those with intellectual disability. We then explore clinical management pathways and obstacles to optimal care for this disorder around the world by focusing on a number of countries with different cultural backgrounds and at very different stages of social and economic development (United Kingdom, U.S.A., Zambia, Georgia, China, and Japan). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The Policies and Guidelines provide guidance on ontologies, diagnostics, biomarkers, patient registries, biobanks, natural history, therapeutics, models, publication, intellectual property, and communication. Most IRDiRC members—currently nearly 50 strong—have since incorporated its policies in their funding calls and some have chosen to exceed the requirements laid out, for instance in relation to data sharing. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…OBJECTIVES: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder that is characterized by hyperphagia, developmental delay, incomplete sexual development, mild-to-moderate intellectual disability, and a variety of challenging behavioral and psychiatric symptoms. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In humans, mutations in the NMD factor gene, UPF3B, cause intellectual disability (ID) and are strongly associated with autism spectrum (ASD), attention deficit hyperactivity disorder (ADHD), and schizophrenia (SCZ). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…INTRODUCTION: Down syndrome (DS) is the most frequent genetic cause of intellectual disability. Despite the fact that more than 50 years have passed since the discovery of its genetic aberrations, the exact pathogenesis of the DS phenotype has remained largely unexplained. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: The hemizygous genetic deletion in the 22q11.2 locus causes a syndrome (22q11DS) characterized by developmental social and intellectual disabilities, high prevalence of attention deficit hyperactivity disorder (ADHD; ≈37%) during childhood and schizophrenia (≈41%) in adulthood. …”
Enlace del recurso
Enlace del recurso

“…CONCLUSIONS: Double heterozygous recessive mutations are the cause of BChE deficiency of this boy in this study, including a novel mutation c.73A > T. Intellectual disability is a new phenotype that is probably associated with this mutation.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In the budding yeast Saccharomyces cerevisiae and the phylogenetically distant fission yeast Schizosaccharomyces pombe, trm7Δ mutants grow poorly due to lack of 2'-O-methylation of C(32) and G(34) in the tRNA(Phe) anticodon loop, and lesions in the human TRM7 homolog FTSJ1 cause non-syndromic X-linked intellectual disability (NSXLID). However, it is unclear why trm7Δ mutants grow poorly. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Patients with MLC2B invariably had a milder phenotype with preservation of motor function, while intellectual disability and autism were relatively frequent. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In addition to lower limb spasticity, this syndrome features intellectual disability, microcephaly, seizures, thin corpus callosum and upper limb spasticity. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Loss-of-function mutations in RAC1 and other genes of the Rac signaling pathway have been implicated in the pathogenesis of Intellectual Disability (ID). The Rac1 activity is negatively controlled by GAP proteins, however the effect of Rac1 hyperactivity on neuronal networking in vivo has been poorly studied. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…As a child she did not complete formal education or acquire vocational skills even though intellectual disability was never established. During adulthood she became socially deprived owing to her physical features and educational handicap. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…To meet researchers’ increasing interest in the fast growing innovation activities taking place in China, we match patents filed with China’s State Intellectual Property Office to firms covered in China’s Census. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Typical symptoms include intellectual, motor and hearing impairment, facial coarsening, and musculoskeletal abnormalities. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Icotinb is China's first EGFR-TKI with independent intellectual property rights. The aim of this study is to investigate the clinical characteristics about the beneficiary of advanced NSCLC patients with EGFR Common mutation who were treated with Icotinib. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Medline, PsychINFO and Web of Knowledge were searched for studies of depression in: (a) adults with ASC, without co‐morbid intellectual disability; and (b) adults from the general population without co‐morbid conditions. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso