Results 71 to 80 of about 1,306,333 (312)

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 constitutional consequences of financial crisis and the use of emergency powers. flexibility and emergency sources [PDF]

, 2015
Analisys of transformation of norms and sources (i.e.
CIOLLI, INES
core  

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

Constitutional Court of the Republic of Indonesia: Does the Ultra Petita Principle Reflect the Truth of Law?

Fiat Justisia, 2020
Constitutional Court is one of the conductors in Indonesia’s judicial power as regulated by Article 24 (2) and Article 24C (1) through (6) of the 1945 Constitution of the Republic of Indonesia, that adjudicates at the first and last levels whose decision
Bagus Hermanto, I Gede Yusa, Nyoman Mas Aryani   +2 more
doaj   +1 more source

The Possibility of Establishing the Ombudsman of the Republic of Poland as a Body for the Protection of Whistleblowers Reporting Violations of European Union Law. Constitutional Issues

Studies in Logic, Grammar and Rhetoric, 2023
The purpose of this article is to analyze the constitutional considerations of the possibility of establishing the Ombudsman as a body to receive reports of violations of the law under the authority of Directive Directive (EU) 2019/1937 of the European ...
Ożóg Michał
doaj   +1 more source

Constitution of the Earth [PDF]

Science, 1886
n ...
openaire   +4 more sources

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

Migration amendment strengthening biometrics integrity bill 2015 [PDF]

This bill covers the introduction of a single, broad power for collecting personal identifiers, and the collection of biometric information from minors, \u27incapable\u27 persons and asylum ...
Senate Legal and Constitutional Affairs Committee
core  

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

Putusan Mahkamah Konstitusi yang Memuat Keadilan Sosial dalam Pengujian Undang-Undang

Jurnal Konstitusi, 2020
Mahkamah Konstitusi sebagai lembaga yang lahir berdasarkan amandemen UUD 1945 memiliki fungsi sebagai lembaga terakhir penafsir konstitusi atau yang sering disebut sebagai the final interpreter of constitution.
Anna Triningsih, Oly Viana Agustine
doaj   +1 more source