Results 151 to 160 of about 4,152,276 (352)

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina   +6 more
wiley   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking   +6 more
wiley   +1 more source

Legal Regulation of Surrogate Maternity

open access: yesVestnik Omskoj Ûridičeskoj Akademii, 2012
The article is devoted to the analysis of legal problems connected with the introduction of the Surrogate Maternity Institution.
Tsvetkov V. A.
doaj  

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon   +20 more
wiley   +1 more source

LEGAL REGULATION OF CONSTRUCTION ACTIVITY

open access: yesRussian Journal of Economics and Law, 2011
The article reveals topical issues of legal regulation of construction activity. The author proposes his definition of construction activity notion and characterizes the main stages of construction activity and features of their legal regulation.
R. Ganeyev
doaj  

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