Results 211 to 220 of about 15,861 (282)

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

Wet Transfer of In Situ Grown Azo‐Containing Two‐Dimensional Conjugated Covalent Organic Framework Films for Photoswitchable Electronic Devices

Angewandte Chemie, EarlyView.
Wet transfer of an atomically flat azo‐functionalized 2D covalent organic framework film onto monolayer MoS2 enables clean van der Waals heterostructure devices with reversible photoswitching and multilevel nonvolatile memory. ABSTRACT Two‐dimensional π‐conjugated covalent organic frameworks (2D π‐COFs) combine in‐plane π‐delocalization with periodic ...
Kexin Wang, Bin Han, Fan Qiu, Yeonsu Jeong, Yusheng Chen, Yubin Fu, Christos Gatsios, Marco Vittorio Nardi, Melanie Timpel, Yang Hou, Shun‐Qi Xu, Paolo Samorì   +11 more
wiley   +2 more sources

Emotion regulation, not executive functioning, mediates longitudinal links between unpredictability in adolescence and social connectedness in young adulthood. [PDF]

Sci Rep
Meyer C, Lindenmuth M, Clinchard C, Deater-Deckard K, Casas B, Kim-Spoon J.   +5 more
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

Metal‐free Hydrogen Generation from Seawater and Silicon Waste: A Circular Approach

Angewandte Chemie, EarlyView.
Hydrogen was rapidly generated directly from untreated seawater and polymeric Si waste without any transition metal catalyst. The in situ generated polymeric cross‐linked Si resin was completely depolymerized under mild conditions into chloro‐silane monomers.
Mustapha Hamdaoui, Anja Steinmaurer, Philipp Jernej, Daniel Legenstein, Peter Hartmann, Adrian Daniel Boese, Katalin Barta   +6 more
wiley   +2 more sources

Managing your life as an IR - perspective of a young IR. [PDF]

CVIR Endovasc
Grbanović L, Alduk AM.
europepmc   +1 more source

A solo journey in the shadow of a double-edged pandemic: A qualitative study of women's experience of being pregnant during the COVID-19 pandemic. [PDF]

PLoS One
Lindahl YL, Norén H, Engström AH, Grandahl M, Åslund C.   +4 more
europepmc   +1 more source

SPECTRA: A Conceptual Framework to Bridge Praxis and Remap Relational Violence in India Using a Complex Trauma Lens. [PDF]

Behav Sci (Basel)
Sen M, Rajvanshi S, Khandelwal S, Ghosh S.   +3 more
europepmc   +1 more source

Patients' Experiences and Unmet Needs in Atrial Fibrillation: Implications for Person-Centred Care. [PDF]

Scand J Caring Sci
Machado AM, Ferraz AS, Leite F, Pereira MG.   +3 more
europepmc   +1 more source

The chain-mediating role of caregiver burden and illness uncertainty between social support and preparedness among family caregivers of spinal cord injury patients. [PDF]

PLoS One
Zhuang S, Wu J, Li D, Li L, Dong S, Zang Y.   +5 more
europepmc   +1 more source