Results 61 to 70 of about 165,723 (307)
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 +25 more
wiley +1 more source
Composition of parliamentary committees and their specializations [PDF]
الرافدین للحقوق, 2005 The importance of parliamentary committees and means of developing their work:The powers of the Parliament are essential elements in the political and constitutional life of all democratic systems because this institution has important functions that ...
Amer Ayyash Abd
doaj +1 more source
, 2012 The articles published in this volume of Law and Contemporary Problems address the constitutionality of the minimum coverage provision in the Patient Protection and Affordable Care Act (ACA), either directly or indirectly.
Siegel, Neil S.
core +1 more source
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 +10 more
wiley +1 more source
Padjadjaran: Jurnal Ilmu Hukum, 2015 Abstrak Dekonsentrasi adalah salah satu mekanisme yang sangat penting dalam penyelenggaraan urusan pemerintah pusat di daerah. Pengaturan mengenai dekonsentrasi ini terdapat dalam UU Nomor 23 Tahun 2014 tentang Pemerintahan Daerah (UU Pemda 2014) yang ...
William Sanjaya
doaj +1 more source
Comprehensive Analysis of Arkansas Teacher Salaries: State, Region, and District [PDF]
, 2017 School funding has been an area of contention in the courts of nearly every state. Many of these court cases have challenged the constitutionality of state funding formulas, arguing the funding system was inadequate or inequitable because poor urban or ...
Kopotic, Katherine M. +2 more
core +2 more sources
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 +10 more
wiley +1 more source
Constitutional protection of pensioners’ human dignity [PDF]
Војно дело, 2016 This paper proceeds from the hypothesis that unequal treatment of citizens in terms of their rights may be the result of self- restriction of constitutionality by the Constitutional Court and that it can lead to violations of the principle of equality in
Gudelj Nadežda
doaj +1 more source
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 +5 more
wiley +1 more source
The Constitutionality of Mandatory Public School Community Service Programs [PDF]
, 1999 Constitutional challenges to community service programs may be divided into two generic types--those raised by students or parents who object to the requirement of community service, and those raised by students, parents, organizations, or agencies who ...
Smolla, Rodney A.
core +1 more source