Results 41 to 50 of about 119,613 (310)

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

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

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

Australian 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

A comparison of European systems of direct access to constitutional judges: exploring advantages for the Italian Constitutional Court [PDF]

, 2012
As protection of fundamental rights increasingly becomes a defining feature of modern constitutionalism, some countries debate over the opportunity to introduce systems of direct individual access to constitutional judges to increase protection of ...
Gentili, Gianluca
core  

Strengthening Treaty Understanding: The Role of Education in Building Durable Indigenous–State Agreements

Australian Journal of Social Issues, EarlyView.
ABSTRACT Education is a central mechanism for ensuring that Indigenous–State treaties are understood, supported and endure through political change. Public knowledge shapes the negotiation, acceptance, implementation and long‐term stability of agreements. In Australia, however, treaty knowledge remains fragmented.
Jacob Prehn, Harry Hobbs, Jessica Horton
wiley   +1 more source

CONTROL OF THE CONSTITUTIONALITY OF ACTS VIA THE DECISIONS OF THE CONSTITUTIONAL COURT OF THE REPUBLIC OF MACEDONIA

Iustinianus Primus Law Review, 2015
The control of the constitutionality of the legal acts of the Republic of Macedonia is the main competence of the Constitutional Court of the Republic of Macedonia.
Jelena Trajkovska Hristovska
doaj  

THE CONSTITUTIONAL COURT IN THE REPUBLIC OF MACEDONIA: ARBITRARY INTERPRETATION OF ITS COMPETENCIES

Iustinianus Primus Law Review, 2016
Every legal system strives to be coherent. The task of the constitutional judiciary is through control of the constitutionality and legality to ensure compliance of the entire legal system.
Renata Treneska Deskoska
doaj  

El uso del dere cho convencional internacional de los derechos humanos en la jurisprudencia del tribunal constitucional chileno en el periodo 2006-2010* [PDF]

, 2012
Alcala, HN (reprint author), Univ Talca, Ctr Estudios Constituc, Fac Derecho, Talca, Chile.The study analyses how the Constitutional Court in the last five years has taken on the international law of human rights in the context of constitutionalism ...
Alcala, H.N.
core  

Standstill with constitutional review procedure: An addendum to debate on constitutionality protection in objective sense [PDF]

Zbornik Radova: Pravni Fakultet u Novom Sadu, 2017
Subject of the paper is standstill with constitutional normative control of law. This institute could be applied on the base of Constitutional Court's decision, dealing with demand previously submitted by the state organ whose disputed general act is ...
Orlović Slobodan P., Rajić Nataša N.
doaj