Results 141 to 150 of about 986,928 (308)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro +10 more
wiley +1 more source
Public institutions and private transactions : the legal and regulatory environment for business private transactions in Brazil and Chile [PDF]
Drawing on the new institutional economics, the authors examine the impact on businesses of Brazil's relatively complex, nontransparent legal and regulatory institutions and compare their costs with those of Chile's institutions, which are relatively ...
Levy, Brian +2 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Precautionary Savings by Natives and Immigrants in Germany [PDF]
This paper analyses the savings behaviour of natives and immigrants in Germany. It is argued that uncertainty about future income and legal status (in case of immigrants) is a key component in the determination of the level of precautionary savings ...
Matloob Piracha, Yu Zhu
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi +6 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
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Willful Infringement and the Evidentiary Value of Opinion Letters After Knorr–Bremse v. Dana [PDF]
, 2005 Recently, the Federal Circuit in Knorr-Bremse v. Dana overruled almost twenty years of precedent by striking down the adverse inference doctrine, which had created a negative presumption against any alleged patent infringer for failing to obtain and ...
Stowell, Joshua
core +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley +1 more source
Legal Malingering: A Vortex of Uncertainty [PDF]
SSRN Electronic Journal, 2019 openaire +2 more sources