Results 181 to 190 of about 170,901 (307)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Social Media Listening in Congenital Ichthyosis: Quantitative and Qualitative Findings. [PDF]

JMIR Form Res
Severino-Freire M, Granier Tournier C, Malaab J, Süßmuth K, Gostynski A, Hernández-Martín Á, Mazereeuw-Hautier J.   +6 more
europepmc   +1 more source

Understanding attitudes to childcare and childcare language among low-income parents [PDF]

, 2008
Roberts, Karen
core  

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Early years examination to identify suspect cerebral visual impairment (EYE-CVI): a feasibility study. [PDF]

BMJ Open Ophthalmol
Barrett BT, Vancleef K, Pilling RF.
europepmc   +1 more source

Prevalence of Early Childhood Caries in Africa: A Systematic Review. [PDF]

Int J Paediatr Dent
Kimmie-Dhansay F, Nkambule NR, Schoonraad N, Albougy H, Bhayat A.   +4 more
europepmc   +1 more source

The early years single funding formula : Government response to the seventh report from the Children, Schools and Families Committee, Session 2009-10 : second special report of Session 2010-11 [PDF]

, 2010

core  

Trauma‐Informed Practice in Welfare‐to‐Work and Employment Services: A Scoping Review

Australian Journal of Social Issues, EarlyView.
ABSTRACT There is increasing recognition within welfare services, including employment services, that many participants may have histories of trauma. Research suggests that experiences of trauma not only impact individuals' psychosocial health but also vocational elements such as job performance, employability, career progression, and financial ...
Emily Corbett, Michael McGann, Mark Considine, René Rejón   +3 more
wiley   +1 more source

Baby-to-baby strain transmission shapes the developing gut microbiome. [PDF]

Nature
Ricci L, Heidrich V, Punčochář M, Armanini F, Ciciani M, Nabinejad A, Fazaeli F, Piperni E, Servais C, Pinto F, Valles-Colomer M, Asnicar F, Segata N.   +12 more
europepmc   +1 more source

Social Determinants of Health and Health‐Related Quality of Life: The Potential Mediating Role of Social Activities, Access to Medical Services, and Access to Social Services

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study explored the mediating influences of access to social activities, social services, and health and medical services on the relationship between social determinants of health and health‐related quality of life. A survey of 602 adults was conducted in a regional area of Australia.
Candice Oster, Ashleigh Powell, Claire Hutchinson, Richard Leibbrandt, Svetlana Bogomolova   +4 more
wiley   +1 more source