Results 211 to 220 of about 286,996 (261)

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 motherhood penalty and absence of leisure rights: legal examination and institutional response under China's three-child policy. [PDF]

Front Sociol
Huang T, Hu Z.
europepmc   +1 more source

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

Exploring the health and well-being benefits of reduced working hours with maintained salary: A scoping review and evidence map. [PDF]

Scand J Work Environ Health
Utzet M, Soler M, Ramada JM, Menéndez M, Silva-Peñaherrera M, Benavides FG, Serra C.   +6 more
europepmc   +1 more source

Navigating the digital era: The impact of digitalization and work-life harmony on well-being among solo self-employed individuals. [PDF]

PLoS One
Jo H, Ahn H.
europepmc   +1 more source

The Role of Psychosocial Support in Balance Improvements Following a Community-Based Tai Chi Program Among Latino Older Adults. [PDF]

Behav Sci (Basel)
Qin Z, Rajaram SS, Padilla C, Siu KC.
europepmc   +1 more source

Women in Microsurgery. [PDF]

Arch Plast Surg
Pons G.
europepmc   +1 more source

Multidimensional Healthy Adult Scale: Development and validation of a measurement tool to understand how the Healthy Adult works in a Turkish population. [PDF]

PLoS One
Yakın D, Billen E, Grasman R, Arntz A.
europepmc   +1 more source

Work-life balance and work engagement: the mediating role of work frustration. [PDF]

BMC Psychol
Zhang J, Wang T, Zhang Y, Yao Y.
europepmc   +1 more source

Boundaries, Balance, and the Courage to Say No.

Pediatr Neurosurg
Tovar-Spinoza Z.
europepmc   +1 more source