Results 111 to 120 of about 138,099 (292)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

The Right to Be Heard in Composite Administrative Procedures: Lost in Between Protection? [PDF]

, 2011
In this article, the authors examine and question the rule developed by the judiciary according to which, in composite EU administrative procedures, the right to be heard must in the first place be ensured in the relationships between the affected person
MENDES, Joana
core  

Good administration for whom, by whom? The right to be heard and the right of access to files in resolution matters

, 2022
In all five cases on the Banco Popular resolution (T-481/17, T-510/17, T-523/17, T-570/17, and T-628/17), the applicants argued that their right to some aspect of good administration in Article 41 of the EU Charter of Fundamental Rights (CFR) had been ...
Reichel, Jane
core  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

How listening to children impacts their quality of life: a cross-sectional study of school-age children during the COVID-19 pandemic in Japan

BMJ Paediatrics Open
Objective To examine the association between children’s quality of life (QOL) and their experience of being heard by family and/or teachers during the COVID-19 pandemic.Design A cross-sectional study.Settings A randomly sampled postal survey of fifth or ...
Naho Morisaki, Yui Yamaoka, Arisa Yamaguchi, Christina D Bethell   +3 more
doaj   +1 more source

THE RIGHT OF CHILDREN TO BE HEARD IN CROATIAN CIVIL LAW

EU and comparative law issues and challenges series
The active involvement of a person in court proceedings is essential for his effective participation and is a reflection of his right to be heard. The right to be heard is one of the basic pro-cedural rights, which implies that a person should be allowed to express his concerns as well as his experience that what he said has be taken into account in ...
Knol Radoja, Katarina, Šago, Dinka
openaire   +2 more sources

THE CHILD’S RIGHT TO BE HEARD IN LAW AND SOCIAL WORK

Pravo djeteta iz čl. 12. Konvencije UN-a o pravima djeteta jamči svakom djetetu koje je sposobno formirati vlastito mišljenje pravo na izražavanje mišljenja u stvarima koje se na njega odnose.
Lucić, Nataša, Rešetar, Branka
core   +2 more sources

Employees' pre-dismissal right to be heard: the Malaysian and the Islamic perspective [PDF]

, 2018
It seemed to be a settled principle of law that before an employee can be dismissed from his job for misconduct, he must have a notice of the allegation against him and accorded a reasonable opportunity of being heard.
Abdul Karim, Junaidah, Ahmad, Abdul Muhsin, Tay, Pek San, Jamaluddin, Siti Zaharah, Karim, Junaidah Abd   +4 more
core  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Meaningful Participation In The Formation of Law By The House of Representatives

Yurisdiksi: Jurnal Wacana Hukum dan Sains
Public participation in the formation of laws is one manifestation of the principles of popular sovereignty and a democratic state based on the rule of law. The development of Indonesian constitutional law, through Constitutional Court Decision Number 91/
Lalu Muhammad Amar Fawazi, Moh. Fadli, Shinta Hadiyantina   +2 more
doaj   +1 more source