Results 161 to 170 of about 4,152,276 (352)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart +6 more
wiley +1 more source
Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses +21 more
wiley +1 more source
Uniform laws and regulations in the areas of legal metrology and motor fuel quality
, 1998 Thomas F. Coleman, Terry L Grimes
openalex +1 more source
Taking the 'Personal' Out of Personal Data: Durant v FSA and its Impact on the Legal Regulation of CCTV [PDF]
, 2004 Lilian Edwards
openalex +1 more source
Legal regulation of psychotropic drugs
South African Medical Journal, 2019 Scott, Keith, van Niekerk, J P de V
openaire +5 more sources
University proceedings. Volga region. Social sciences
Известия высших учебных заведений. Поволжский регион: Общественные наукиBackground. The complexity of legal regulation of economic and related social relations in the context of modern challenges and threats requires taking into account in such regulation indicators of human quality of life.
S.A. Agamagomedova
doaj +1 more source
Towards a post interventionist strategy for the legal regulation of the environment.
, 1999 David Schneider
openalex +1 more source
Toxics and Transnational Law: International and European Regulation of Toxic Substances as Legal Symbolism [PDF]
, 2004 Katharina Kummer Peiry
openalex +1 more source
Digital welfare‐to‐work in the global south: A case of Indonesian pre‐employment card program
Australian Journal of Social Issues, EarlyView.Abstract The worldwide movement toward digitisation in public service delivery presents a range of opportunities and risks. The potential benefits include improved efficiency, more consistent service delivery decisions and enhanced responsiveness to citizens' demand.
Phuc Nguyen +3 more
wiley +1 more source
Legal Regulations, Research and Human Subjects [PDF]
, 2004 Arianna Greco, Amedeo Santosuosso
openalex +1 more source