Results 181 to 190 of about 107,750 (302)

Retraction: NAD(P)H: Quinone oxidoreductase 1 deficiency conjoint with marginal vitamin C deficiency causes cigarette smoke induced myelodysplastic syndromes. [PDF]

PLoS One
PLOS One Editors.
europepmc   +1 more source

Lattice surgery realized on two distance-three repetition codes with superconducting qubits. [PDF]

Nat Phys
Besedin I, Kerschbaum M, Knoll J, Hesner I, Bödeker L, Colmenarez L, Hofele L, Lacroix N, Hellings C, Swiadek F, Flasby A, Bahrami Panah M, Colao Zanuz D, Müller M, Wallraff A.   +14 more
europepmc   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Erratum: WITHDRAWAL - Administrative Duplicate Publication: Expanding the Diagnostic Lens: Mast Cell Activation Syndromes and the Hidden Spectrum of Angioedema Associated Mortality in COVID-19. [PDF]

Acad Forensic Pathol
europepmc   +1 more source

Montage Error in Ultra-Widefield Imaging of Retinal Hemangioblastomas. [PDF]

Case Rep Ophthalmol Med
Belmouhand M, Kiilgaard JF, Faber C.
europepmc   +1 more source

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

Flawed design and selection bias in critical care randomized controlled trials (RCTs): the patient safety risk of the "RCT mimic". [PDF]

Patient Saf Surg
Lynn LA.
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

Anomalous Right Coronary Artery Intervention Guided by Patient-Specific 3-Dimensional Printed Modeling. [PDF]

JACC Case Rep
Jossart A, Noterdaeme T, Gach O, Colletti G, Boukhris M, Ungureanu C.   +5 more
europepmc   +1 more source

Pilodental dysplasia-refractive errors syndrome [PDF]

, 2020
openaire   +1 more source