Results 151 to 160 of about 631,764 (332)
Clinical standards and interpretation of gene sequence variants in human Mendelian disorders
Chinese Journal of Contemporary Neurology and Neurosurgery, 2017 DOI: 10.3969/j.issn.1672-6731.2017.07 ...
Bei-sha TANG, Sheng ZENG, Kai LI
doaj
Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. [PDF]
, 2019 Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders.
Abbeduto, Leonard +3 more
core +1 more source
Advanced Science, EarlyView.An optimized protocol is developed to differentiate human iPSCs into pituitary organoids and the cellular composition, intercellular interactions, and spatial organization within pituitary organoids are characterized via scRNA‐seq and Stereo‐seq.
Shengjie Wang +8 more
wiley +1 more source
Strategies and problems of genetic diagnosis for neurogenetic diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2017 Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next - generation ...
Xun-hua LI, Ding-bang CHEN, Chao WU
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Respuesta inmune por anticuerpos en niños de hasta cinco años con enfermedades genéticas
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2020 Fundamento: la valoración inmunológica forma parte del tratamiento integral a los pacientes con enfermedades genéticas. Las deficiencias de anticuerpos representan las alteraciones inmunológicas más frecuentes.Objetivo: describir la respuesta de ...
Enelis Reyes-Reyes +3 more
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Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]
, 2008 Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo +8 more
core +1 more source
Advanced Science, EarlyView.A model is schematically represented for the major molecular mechanisms by which homocysteine (Hcy) accelerates the nuclear export of circ‐PIAS1‐5, which regulates atherosclerosis by acting as a competing endogenous RNA for miR‐219a‐2‐3p. Hcy enrichment of circ‐PIAS1‐5 leads to YTHDC1 binding to circ‐PIAS1‐5 and promotes its intracellular localization ...
Shengchao Ma +13 more
wiley +1 more source
GemTools: A fast and efficient approach to estimating genetic ancestry [PDF]
arXiv, 2011 To uncover the genetic basis of complex disease, individuals are often measured at a large number of genetic variants (usually SNPs) across the genome. GemTools provides computationally efficient tools for modeling genetic ancestry based on SNP genotypes.
arxiv
Agribusiness, EarlyView.ABSTRACT This study combines sensory analysis and stated preference valuation techniques to assess the monetary value of organoleptic attributes of new tomato varieties. The tomatoes evaluated included two new varieties adapted to South Texas growing conditions, a commercial check, and tomatoes imported from Mexico.
Samuel D. Zapata +3 more
wiley +1 more source
A perilous path: the inborn errors of sphingolipid metabolism
Journal of Lipid Research, 2019 The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
Teresa M. Dunn +2 more
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