Results 191 to 200 of about 121,275,569 (242)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

A National Survey of VA to Assess Availability of Care for Patients With Cardiac Amyloidosis. [PDF]

JACC Adv
Yoo SGK, Zelleke AB, Khaira KB, Dev S, Shah NR, Mitchell JD, Warner A, Javaheri A, Moreno JD.   +8 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Clinical features and disease severity across immune status in pediatric patients with COVID-19. [PDF]

Ann Saudi Med
Al-Dajani NM, Bahasan MA, Alzubed MA, AlSahafi RA, Alturkistani EL, AlZahrani NS.   +5 more
europepmc   +1 more source

Transition From Primary to Secondary School: Igniting Attendance and Engagement Among Aboriginal and Torres Strait Islander Students Through National Policy Reform

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Closing the Gap reform aims to address disparities experienced by Aboriginal and Torres Strait Islander peoples. There are specific targets focussed on key educational transitions; yet, the transition to secondary education is not a targeted priority.
Azhar Hussain Potia, Kai W. Wheeler, Tracy Woodroffe, Karen Thorpe   +3 more
wiley   +1 more source

The COMEBACK Study: Social Determinants of Health Impact on Virologic Suppression in a 48-Week Low-Barrier-Care Study of Rapid Antiretroviral Therapy Reinitiation Among Persons With HIV Lost to Care. [PDF]

Open Forum Infect Dis
Huhn GD, Osborn R, Roden L, Keckler K, DeMarco C, Valadez PC.   +5 more
europepmc   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

Australian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton, Tania Signal, Jenni A. Judd   +2 more
wiley   +1 more source

GLP-1 Receptor Agonists or SGLT2 Inhibitors and Nonarteritic Anterior Ischemic Optic Neuropathy.

JAMA Netw Open
Choi T, Al-Aly Z, Xie Y.
europepmc   +1 more source

Communicator and collaborator - a Finnish national repeated cross-sectional survey of the two CanMEDS competencies by specialty group. [PDF]

BMC Med Educ
Halava H, Parmanne P, Kaila M, Heikkilä T, Niemi-Murola L.   +4 more
europepmc   +1 more source