Results 161 to 170 of about 48,987 (285)

Industry structure and regulation [PDF]

open access: yes
As private firms become increasingly involved in the development of key infrastructure, redefining the role of government from that of serviceprovider to regulator presents both challenges and opportunities.
Stewart-Smith, Martin C.
core  

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas   +9 more
wiley   +1 more source

Administrative and legal regulation international economic activity in Ukraine

open access: yes, 2014
Досліджено питання адміністративно-правового регулювання міжнародної економічної діяльності в Україні. Розглянуто загальні засади механізму адміністративно-правового регулювання цієї діяльності.
Zalevska, Anastasiia   +2 more
core  

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale   +2 more
wiley   +1 more source

ADMINISTRATIVE CONVERGENCE AND REFORMS IN SOUTH-EASTERN EUROPEAN STATES - Analyses, models and comparative studies [PDF]

open access: yes
The fundamental idea of the current publication emphasizes the characteristics of the processes related to administrative convergence and reform in the South-Eastern European states. Of course the area under review is quite wide and complex and therefore
Ani Matei, Panagiotis Grigoriou
core  

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert   +4 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan   +13 more
wiley   +1 more source

Home - About - Disclaimer - Privacy