Results 231 to 240 of about 1,098,240 (291)

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities. [PDF]

Hum Mutat
Calvo JS, Heger T, Kabin E, Mowrey WR, Del Angel G, Ding W, Lutsenko S.   +6 more
europepmc   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Coexisting elastosis perforans serpiginosa and acquired cutis laxa following long-term penicillamine in Wilson disease. [PDF]

Skin Health Dis
Ma TA, Van Rooij N.
europepmc   +1 more source

Toxicological and clinical aspects of cyanide metabolism [PDF]

, 1975
Baumeister, Rüdiger, Schievelbein, Helmut, Zickgraf-Rüdel, G.   +2 more
core  

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

From severe aplastic anemia with TERT variant to Wilson disease - associations or not. [PDF]

Ann Hematol
Chen T, Song J, Xing L, Chen J, Dong X, Li L, Yang J, Liu W, Shao Z, Fu R.   +9 more
europepmc   +1 more source

Medication prescription patterns in cancer rehabilitation physiatry outpatients: A multicenter retrospective study

PM&R, EarlyView.
Abstract Background and Objective Previous work from this dataset found 45% prescribing frequency of any medications (35.1%, 33.5%, and 56.8% at institutions 1, 2, and 3 respectively), without significant difference between in‐person and telemedicine.
Matthew Chen, Nafis Eghrari, David Leong, Philip Chang, Jasmine Zheng, Amy Ng, Richard Wilson, Mary Vargo   +7 more
wiley   +1 more source

The Future of the Wrongful Birth Cause of Action [PDF]

, 1992
Grobe, Rachel Tranquillo
core   +1 more source

Digitisation of herbarium specimens to the benefit of research: An African perspective focusing on South Africa and Western Indian Ocean Island states

PLANTS, PEOPLE, PLANET, EarlyView.
Botanical exploration, discovery and conservation rely heavily on access to herbarium collections. Recently, digital access to label information, including georeferenced locality data, and images of herbarium specimens available online have greatly increased usage of herbarium specimen data.
Ronell R. Klopper, Hester M. Steyn, Cláudia Baider, Benny Bytebier, Anisha Dayaram, F. B. Vincent Florens, Nivohenintsoa Rakotonirina, Domitilla Raimondo, Marc Sosef, M. Marianne le Roux   +9 more
wiley   +1 more source

Acute Deep Vein Thrombosis Presents as an Early Complication of Wilson Disease. [PDF]

Cureus
Faroun A, Faroun R, Mashal R, Sultan M.
europepmc   +1 more source