Results 121 to 130 of about 1,628,830 (302)

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Trabalho infanto-juvenil: motivações, aspectos legais e repercussão social

Cadernos de Saúde Pública
A população infanto-juvenil constitui-se hoje em um dos segmentos mais prejudicados pelo acirramento dos problemas sócio-econômico-culturais que o País enfrenta. O não oferecimento por parte do poder público de uma rede de ensino de qualidade e universal,
Otávio Cruz Neto, Marcelo Rasga Moreira
doaj  

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen, Elleke Tissink, Reeteka Sud, Mandy Johnstone, Richard Josiassen, Andrea Lahti, Laura Huckins, Ariana Page, Stigma Reduction Interest Group of the ISPG, Jordan W. Smoller, Jehannine Austin, Janneke Zinkstok, Sarah E. Medland, Rada Veeneman, Anna R. Docherty   +14 more
wiley   +1 more source

Investigation report on the death of JB.

, 2003
Cover title.; "Anne Broadhurst, Principal Investigator."; "Information compiled by the State of Connecticut, Office of Protection and Advocacy for Persons with Disabilities, Protection and Advocacy for Individuals with Mental Illness Program"--T.p. verso.
Connecticut. Office of Protection and Advocacy for Persons with Disabilities.
core   +1 more source

An Urgent Call for Collective Advocacy Against Child Marriage: Advancing Adolescent Girls’ Rights and Health

Adolescents
Child marriage remains a major threat to adolescent girls’ health, development, and rights worldwide. Despite decades of progress, recent policy backsliding and sociopolitical instability have created new risks, with examples from Iraq, Afghanistan, and ...
Yvette Efevbera, Anshu Banerjee, Nuray Kanbur   +2 more
doaj   +1 more source

Office of Protection and Advocacy for Persons with Disabilities [web site] [Harvested on 2011: May 24]

, 2011
Updated irregularly; Began in 2002?; Title from home page (publisher's Web site, viewed May 23, 2011).; At head of title: State of Connecticut.; Harvested from the web on 5/24/11Official website of the Connecticut Office of Protection and Advocacy for ...

core  

Oregon Advocacy Commissions : joint statement on policing

, 2020
Title from PDF caption (viewed on September 14, 2020).This archived document is maintained by the State Library of Oregon as part of the Oregon Documents Depository Program. It is for informational purposes and may not be suitable for legal purposes.Mode

core  

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Office of Protection and Advocacy for Persons with Disabilities [web site] [Harvested on 2015: Sep. 21]

, 2015
Updated irregularly; Began in 2002?; Title from home page (publisher's Web site, viewed May 23, 2011).; At head of title: State of Connecticut.; Harvested from the web on 9/21/15Official website of the Connecticut Office of Protection and Advocacy for ...

core