Results 51 to 60 of about 344,460 (308)

Ghost in the shell: the narrative entanglement of constitutional and preconstitutional identity

European Law Open
The notion of constitutional identity rests on a seemingly inevitable tension: it is seen both as a source of inclusive social cohesion and as a potentially exclusionary concept invoked to justify populist claims and divergent interpretations of the rule
Ana Van Liedekerke, Christophe Maes
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

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

American 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, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

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

Utrecht 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

Political participation from a citizenship perspective [PDF]

, 2009
Conventional academic studies on political participation mostly focus on electoral politics including electoral systems, political party structures and their interaction with other governmental processes. These studies adopt an approach that presumes the
Kadioglu, Ayse Gulden, Kadıoğlu, Ayşe Gülden   +1 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

National Identity and European Integration: The Unbearable Lightness of Legal Tradition

European Papers, 2016
(Series Information) European Papers - A Journal on Law and Integration, 2016 1(2), 383-393 | Overview | (Table of Contents) I. Introduction. - II. Legal Traditions and Fundamental Rights. - III. Legal Traditions and National Identity.
Luigi Corrias
doaj   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Who nominates judges? : Some issues underlying judicial appointments in South Africa [PDF]

, 2017
This article examines the importance and impact of the process of nomination on the appointment of judges in South Africa. The process of judicial appointment has changed dramatically following South Africa’s transition from apartheid to constitutional ...
Masengu, Tabeth, Oxtoby, Chris
core   +1 more source

The Hungarian Constitutional Court and Constitutional Identity

, 2017
Ever since the 2010 parliamentary elections Hungary has set off on the journey to became an ‘illiberal’ member state of the EU, which does not comply with the shared values of rule of law and democracy, the ‘basic structure’ of Europe. The new government of Viktor Orbán from the very beginning has justified the non-compliance by referring to national ...
openaire   +3 more sources