Results 181 to 190 of about 72,058 (269)

From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel <i>KRT2</i> variant in superficial epidermolytic ichthyosis with excellent retinoid response. [PDF]

JAAD Int
Bobica AC, Moussa S, Ouchene L, Udupa M, BinJadeed H, Bashihab R, Misiewicz Z, Grönroos L, Powell J, Chergui M, Marino TC, Foulkes WD, Netchiporouk E.   +12 more
europepmc   +1 more source

Perfect Matching Under Precedence Constraints

Networks, EarlyView.
ABSTRACT In this article, we motivate and define variants of perfect matching under precedence constraints where a perfect matching is built incrementally and precedence constraints ensure that an edge may only be added to the matching if the edge's predecessor vertices have already been covered.
Christina Büsing, Corinna Mathwieser
wiley   +1 more source

Case Report: Fetal cardiac rhabdomyoma caused by TSC1 mutation. [PDF]

Front Pediatr
Feng X, Ren Q, Li H, Liu X, Li L.
europepmc   +1 more source

Conservation grounded in traditional ecological knowledge, culture and hunting

People and Nature, EarlyView.
Abstract For millennia, traditional hunting practices have provided a means of subsistence for numerous indigenous peoples worldwide. Not only do managed traditional hunting practices perpetuate Traditional Ecological Knowledge (TEK), but they also promote the sustainable utilization of natural resources.
Wu Fei, Peng Mingsheng, Liu Luming, Zhao Yumeng, Kong Dejun, Wang Kai, Dong Feng, Robert W. Murphy, Yang Xiaojun   +8 more
wiley   +1 more source

Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce. [PDF]

Brief Bioinform
Labory J, Boulaimen Y, Singh J, Ait-El-Mkadem Saadi S, Paquis-Flucklinger V, Bannwarth S, Bottini S.   +6 more
europepmc   +1 more source

Effects of Processing on the Mechanical Performance of GF‐PC Composites: A Multiscale Investigation

Polymer Composites, EarlyView.
From processing and interface conditions, to macro/micro scale characterization, and postmortem analysis. ABSTRACT A robust fiber‐matrix interface is crucial for any composite system, with higher challenges in thermoplastic matrices compared to thermosets (reaction in composite level).
O. Vetterli, G. A. Pappas, P. Ermanni
wiley   +1 more source

Systematic Parameter Selection for Short Fiber Polymer Composite Direct Fiber Simulation

Polymer Composites, EarlyView.
Interactions of individually simulated fibers are systematically calibrated such that their orientation history agrees with the results from analytical orientation models. ABSTRACT The orientation of fibers in short discontinuous fiber reinforced polymer composites is a critical factor in determining final mechanical and thermal properties.
Jason B. Pierce, Douglas E. Smith
wiley   +1 more source

Update on Genetic Chorea. [PDF]

Eur J Neurol
Pérez-Pérez J, Olmedo-Saura G, Martínez-Horta S, Bernal S, Pagonabarraga J, Kulisevsky J.   +5 more
europepmc   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Advancements in Animal Breeding: From Mendelian Genetics to Machine Learning. [PDF]

Int J Mol Sci
Panigrahi M, Rajawat D, Nayak SS, Bose A, Bharia N, Singh S, Sharma A, Dutt T.   +7 more
europepmc   +1 more source