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  1. 11941
    “…BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability, classified into two types RSTS1 (CREBBP-RSTS) and RSTS2 (EP300-RSTS). …”
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    De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
  2. 11942
    “…Besides neuropathy, other associated phenotypes are spastic paraplegia, intellectual disability, and renal hypomagnesemia. We hereby report the first demyelinating CMT case due to a novel ATP1A1 variant. …”
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    The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease
  3. 11943
    “…Open science practices should be promoted to increase the circulation and exploitation rates of knowledge while adjusting and respecting the limits of privacy, intellectual property and national security rights of countries.…”
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    Iranian researchers’ perspective about concept and effect of open science on research publication
  4. 11944
    “…A total of 384 different programs were offered targeting five wellness domains (physical, mental/emotional, social, spiritual, and cognitive/intellectual). The majority of youth identified as young girls/women (58.2%), 22.6% as gender diverse, and 19.2% as young men/boys. …”
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    Infusing wellness opportunities into integrated youth services
  5. 11945
    “…If untreated, this brain dysfunction results in severe microcephaly, intellectual disability, and behavioral problems. Dietary restriction of Phe is the mainstay of PKU treatment, with long-term successful outcomes. …”
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    Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France
  6. 11946
    “…RESULTS: The p.E411D variant was found in a patient with attention deficit-hyperactive disorder (ADHD), and moderate intellectual disability (ID). This mutant demonstrated reduced calcium current density, mRNA, and protein expression, and it was localized in the nucleus, cytoplasm, lysosome, and mitochondria. …”
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    Disruption of mitochondrial and lysosomal functions by human CACNA1C variants expressed in HEK 293 and CHO cells
  7. 11947
    “…Legal advice should be sought regarding intellectual property early in the project. Existing guidance for developing and adapting interventions should be used. …”
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    Adaptation and Implementation of a Shared Decision-Making Tool From One Health Context to Another: Partnership Approach Using Mixed Methods
  8. 11948
    “…Of 14 studies assessing cognitive-developmental outcomes, 175 of 336 (52%) children presented with intellectual disability or developmental delay. A diagnosis of ASD or clinical level of symptoms was observed in 65 of 187 (35%) children across five studies. …”
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    Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review
  9. 11949
    “…Some sleep alterations were moderated by age, sex and concurrent intellectual disability. The median NOS score was 8 (interquartile range 7.25–8.75). …”
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    Subjective and objective sleep alterations in medication-naïve children and adolescents with autism spectrum disorder: a systematic review and meta-analysis
  10. 11950
    “…Diagnosis codes were used to identify NDDs (intellectual disabilities, epilepsy, autism spectrum disorders, spina bifida) and 24 relevant morbidities at baseline (i.e., calendar year 2013). …”
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    Polypharmacy is a risk factor for mortality, severe chronic kidney disease, and liver disease among privately insured adults with cerebral palsy
  11. 11951
    “…Early symptoms of CVD and CKD may be masked by intellectual disability and inability to express physical complaints. …”
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    Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review
  12. 11952
    “…However, the incidence of cerebral palsy (CP) in the preterm group was significantly higher (χ(2) = 4.896; p = 0.027), while the incidence of intellectual disability (ID) (χ(2) = 9.445; p = 0.002), epilepsy (EP) (χ(2) = 23.049; p < 0.001), and CP combined with ID andEP (χ(2) = 4.122; p = 0.042) was significantly lower than that in the term group. …”
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    Clinical characteristics and long-term neurodevelopmental outcomes of leukomalacia in preterm infants and term infants: a cohort study
  13. 11953
    “…IMD patients diagnosed in adulthood (n = 1,426), most frequently portray neurological symptoms (65%), specifically extrapyramidal/cerebellar symptoms (57%), intellectual disability/dementia/psychiatric symptoms (41%), pyramidal tract symptoms/myelopathy (37%), peripheral neuropathy (18%), and epileptic seizures (16%). …”
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    Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
  14. 11954
    “…VHV may have little room with parents with intellectual disabilities and the difficulty in dealing with technology seems to be no longer a major issue. …”
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    Virtual home visits during COVID-19 pandemic: mothers’ and home visitors’ perspectives
  15. 11955
    “…Concerning the diagnosis, Cluster 1 had more Depression, Neurotic and Somatoform disorders; Cluster 2 more Bipolar and Intellectual disability disorders and Cluster 3 more Dementia and Delusional disorders. …”
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    Difficult patients in mental health care–who are they?
  16. 11956
    “…BACKGROUND: Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. This study describes the phenotypic spectrum of CFC in China and its association with CFC syndrome gene variants. …”
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    Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
  17. 11957
    “…Two groups of participants with higher (n = 104) or lower (n = 97) long-term EE were identified, using the self-reported frequency of diverse physical, intellectual, and social leisure activities between the ages 13 to 65. …”
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    Long-term environmental enrichment is associated with better fornix microstructure in older adults
  18. 11958
    “…To better answer the aforementioned questions, it is necessary to comprehend the intellectual foundations and prospective trends of this field through bibliometric analysis. …”
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    Research trends of radiation induced temporal lobe injury in patients with nasopharyngeal carcinoma from 2000 to 2022: a bibliometric analysis
  19. 11959
    “…Patients with known psychiatric illnesses and intellectual disabilities were excluded. After obtaining informed consent and assent, participants were asked to complete age specific depression screening form PHQ-9. …”
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    SAT126 Relationship Between Type I Diabetes And Depression In The Pediatric Population
  20. 11960
    por McHan, Lara C, Augustine, Marilyn
    Publicado 2023
    “…Patient 2 is a 55-year-old nonverbal man with autism and intellectual disability who presented with months of progressive difficulty ambulating, presumed pain, functional decline, and multiple fractures. …”
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    THU465 Significant Improvement In Bone Mineral Density Following Treatment For Tumor Induced Osteomalacia
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