Results 61 to 70 of about 334,318 (260)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello   +10 more
wiley   +1 more source

The Protection of Constitutional Identity in Some East-Central European Countries

open access: yesOpolskie Studia Administracyjno-Prawne
Constitutional identity is, in its essence, an expression of the fundamental constitutional values of a state. The protection of all these values is of paramount importance, both in domestic law and in the relationship between eU law and national ...
Nagy Gellért
doaj   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

The Elusive Contours of Constitutional Identity: 'Taricco' as a Missed Opportunity

open access: yesUtrecht Journal of International and European Law, 2020
The primacy of EU law continues to be challenged by domestic courts relying on the notion of constitutional identity. These challenges are no longer limited to the Solange case law of the German 'Bundesverfassungsgericht' (BVerfG) and the 'controlimiti ...
Robbert Bruggeman, Joris Larik
doaj   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

open access: yesAmerican 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

Fundamental Rights in the European Community Legal Order [PDF]

open access: yes, 2008
The role of the courts in the protection of human rights in any legal system is a constitutionally sensitive one. The observance and protection of such rights articulate with many aspects of the exercise of governmental and legislative power.
Murray, John L.
core   +1 more source

The Fourth Amendment in the Twenty-First Century: Technology, Privacy, and Human Emotions [PDF]

open access: yes, 2002
Police and local political officials in Tampa FL argued that the FaceIt system promotes safety, but privacy advocates objected to the city\u27s recording or utilizing facial images without the victims\u27 consent, some staging protests against the FaceIt
Taslitz, Andrew E.
core   +2 more sources

Unravelling the Referendum: An Analysis of the 2023 Australian Voice to Parliament Referendum Outcomes Across Capital Cities

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The 2023 Australian Voice to Parliament Referendum presented a pivotal moment in the nation's democratic landscape. Despite support for Indigenous well‐being, the referendum did not secure the necessary approval, prompting extensive analysis of its outcome.
Scott Baum, William Mitchell
wiley   +1 more source

Recenzja: Tożsamość konstytucyjna w wybranych państwach członkowskich Unii Europejskiej, red. Andrzej Wróbel, Michał Ziółkowski, Warszawa 2021, ss. 376

open access: yesPrzegląd Konstytucyjny
In the book Constitutional Identity in Selected Member States of the European Union, edited by scientists Andrzej Wróbel and Michał Ziółkowski, the authors present ways of understanding constitutional
Elżbieta Gudowska-Natanek
doaj   +1 more source

The role of Constitutional Court in the development of Italian and Serbian constitutional systems [PDF]

open access: yesZbornik Radova: Pravni Fakultet u Novom Sadu, 2020
Constitutional court, as a special institution of the centralised system of constitutional control, takes significant place in a modern constitutional state.
Orlović Slobodan P., Rajić Nataša N.
doaj  

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