Results 131 to 140 of about 53,000 (243)

Surgery for metabolic liver disease [PDF]

, 1986
Starzl, TE
core  

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová, Karin E. M. Diderich, Wichor M. Bramer, Sander Lamballais, Malgorzata Ilona Srebniak   +4 more
wiley   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Couce ML, Vitoria I.
europepmc   +1 more source

Perioperative hemodynamic parameters monitored by three noninvasive technologies in children with congenital heart disease: A prospective study

Pediatric Discovery, EarlyView.
ROC curves illustrates the predictive value of parameters obtained from three methods in predicting any of the AEs. AEs, adverse events; FPR, false positive rate; TPR, true positive rate; 1 (LVEFmea line overlaps with LVEFmin line); 2 (SVRImea line overlaps with SVRImin line); 3 (SVRImea line, SVRImin line, and LVEFmea line overlap); 4 (SVRImea line ...
Xiaoyu Xiong, Feng Xu, Wei Qiu, Shaojun Li, Chengjun Liu   +4 more
wiley   +1 more source

Inborn Errors of Immunity: New Insights. [PDF]

Acta Med Acad
Roganović J, Bellesi G.
europepmc   +1 more source

Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival

Movement Disorders Clinical Practice, EarlyView.
Silvestre Cuinat, Christèle Dubourg, Gaël Nicolas, Jean‐Madeleine de Sainte Agathe, Sylvie Odent, Laurent Pasquier, Audrey Riou   +6 more
wiley   +1 more source

Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings

Pediatric Discovery, EarlyView.
Abstract Spina bifida is a birth defect resulting from abnormal embryonic development of the neural tube. Though spina bifida is divided into several subtypes, myelomeningocele—the most severe form of spina bifida often associated with a markedly diminished quality of life—accounts for a significant portion of cases.
Ethan S. Wong, Daniel A. Hu, Lily Zhang, Rachel Qi, Cindy Xu, Ou Mei, Guowei Shen, Wulin You, Changqi Luo, Tong‐Chuan He, Russell R. Reid, Lewis S. Shi, Michael J. Lee, Yi Zhu   +13 more
wiley   +1 more source

Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis. [PDF]

J Clin Immunol
Zárate-Pinzón L, Mejía-Salgado G, Cifuentes-González C, Correa-Jiménez O, Amaris S, Alfaro-Murillo A, Téllez-Zambrano J, Verbel A, Monje-Tobar P, de-la-Torre A.   +9 more
europepmc   +1 more source

Plot‐level satellite imagery can substitute for UAVs in assessing maize phenotypes across multistate field trials

PLANTS, PEOPLE, PLANET, EarlyView.
Maize plays a key role in agricultural profitability and food security on six continents. Successful efforts to breed higher‐yielding maize varieties depend on replicated yield trials in many environments. Capturing in‐season data can help improve and accelerate the development of regionally adapted hybrids, but collecting these data can be impractical
Nikee Shrestha, Anirudha Powadi, Jensina Davis, Timilehin T. Ayanlade, Huyu Liu, Michael C. Tross, Ramesh K. Mathivanan, Jordan Bares, Lina Lopez‐Corona, Jonathan Turkus, Lisa Coffey, Talukder Zaki Jubery, Yufeng Ge, Soumik Sarkar, James C. Schnable, Baskar Ganapathysubramanian, Patrick S. Schnable   +16 more
wiley   +1 more source

Infections in Inborn Errors of STATs. [PDF]

Pathogens
Wang C, Freeman AF.
europepmc   +1 more source