Results 141 to 150 of about 981,328 (290)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Pre-empting technical barriers in the Single Market. CEPS Policy Brief No. 277, 11 July 2012 [PDF]
, 2012 Effective enforcement and compliance with EU law is not just a legal necessity, it is also of economic interest since the potential of the Single Market will be fully exploited.
de Brito, Anabela Correia +1 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley +1 more source
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
, 2001 There is legal uncertainty as to whether selective foeticide is authorised under section 47A of the Offences Against the Person Ordinance (1967). Medical and legal issues surrounding a case of selective foeticide in a triplet pregnancy are reported ...
Lau, WL, Law, KM, Leung, KY
core
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Legal Malingering: A Vortex of Uncertainty [PDF]
SSRN Electronic Journal, 2019 openaire +2 more sources
Australian Journal of Social Issues, EarlyView.ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz +7 more
wiley +1 more source
Legal Uncertainty and Land Disputes in the Peri-Urban Areas of Mozambique: Land Markets in Transition [PDF]
The Government of Mozambique is considering legal changes in its land law and administration of state leasehold property-an enormous challenge given its past socialist history and the uncertainties created by its current transition to a private market ...
Boucher, Stephen R. +4 more
core +1 more source