Results 221 to 230 of about 82,236 (297)

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Challenges and approaches to genetic variants of uncertain significance in clinical practice and research. [PDF]

Genome Med
Li Q, Morton SU, Luo S, Stark Z, Agrawal PB.   +4 more
europepmc   +1 more source

Head of ARC MIM U.S. elected president of MIM association

Metal Powder Report, 2016
openaire   +1 more source

Diets, fruit and vegetables consumption, and nutritional status in Benin: A scoping review

Maternal &Child Nutrition, EarlyView.
This scoping review summarised existing literature on diets, fruit and vegetable intake, and nutritional status in Benin. Key knowledge gaps were on the prevalence of micronutrient deficiencies and differences in fruit and vegetable intake by geographical and socioeconomic characteristics.
Lilia Bliznashka, Kamara Pather, Irene M. Mitchodigni, Sonja Y. Hess, Deanna K. Olney   +4 more
wiley   +1 more source

Genetic ancestry and monogenic disease risk in the Scottish Traveller founder population. [PDF]

Nat Commun
Shanmugam A, Fletcher BS, Pala M, Klaric L, Kerr SM, Donaldson SW, Tzoneva G, Shuldiner AR, Richards MB, McLaughlin RL, Cavalleri GL, Byrne RP, Gilbert EH, Wilson JF.   +13 more
europepmc   +1 more source

Understanding the Evidence Gaps: Diets and Fruit and Vegetable Intake Across Five Diverse Low‐ and Middle‐Income Countries

Maternal &Child Nutrition, EarlyView.
This perspective article synthesizes findings from scoping reviews examining diet and F&V intake, and interventions to increase F&V consumption among population groups in five countries: Benin, Fiji, the Philippines, Sri Lanka and Tanzania. ABSTRACT Poor dietary quality, particularly inadequate fruit and vegetable (F&V) intake, remains a significant ...
Manisha Tharaney, Sonja Y. Hess, Lilia Bliznashka, Dorcas A. Amunga, Fusta Azupogo, Nadia Koyratty, Taryn J. Smith, Imelda Angeles‐Agdeppa, Eva A. Goyena, Frederick Grant, Joyce Kinabo, Irene Medeme Mitchodigni, Anasaini Moala Silatolu, Renuka Silva, Mutinta Hambayi, Thushanthi Perera, Deanna K. Olney   +16 more
wiley   +1 more source

Clinical Epigenomics in Rare Diseases: Interpreting DNA Methylation Episignatures. [PDF]

Mol Genet Genomic Med
Goel H, Goh S, Stuart L.
europepmc   +1 more source

Evidentiary Interpretation, Discursive Injustice, and Rap on Trial

Philosophy &Public Affairs, EarlyView.
ABSTRACT The submission of rap lyrics as inculpatory evidence (Rap on Trial) is an active prosecution tactic deployed in United States criminal trials. In this paper, I argue that interpretive ambiguity in rap lyrics is exploited in Rap on Trial cases, constituting a novel form of discursive injustice: extractive discursive injustice.
K. M. Crandall
wiley   +1 more source

Robust intelligent modeling for developing an optimal predictive model of metal powder injection molded dental braces using fuzzy-logic-based multi-objective design. [PDF]

Sci Prog
Huang WT, Huang SC, Guo SH, Lin YT.
europepmc   +1 more source