Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Julie A. Mcglynn"'
Autor:
Eugen Widmeier, Raffaella A. Morotti, Emily K Mis, Velibor Tasic, Kathya Arana, Jonathan Marquez, Monica Konstantino, Julia Baptista, Mustafa K. Khokha, Charu Deshpande, Julie A. McGlynn, Hannah Hugo, Saquib A. Lakhani, Martin Konrad, Friedhelm Hildebrandt, Nina Mann, Lauren Jeffries, Weizhen Ji, Sian Ellard, Engin Deniz
Publikováno v:
Journal of Medical Genetics
BackgroundCilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. Cilia dysfunction is a well-know
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9fa42ef0f8d78dd5e39e35cf436dda
https://doi.org/10.1136/jmedgenet-2019-106805
https://doi.org/10.1136/jmedgenet-2019-106805
Publikováno v:
Cold Spring Harb Perspect Med
Screening and diagnostic testing for single-gene disorders and common syndromes in the pediatric setting frequently generate data that are challenging to interpret, and the ability to diagnose genetic conditions has outpaced the development of succes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17e117087e674785a5eed05d09297b55
https://pubmed.ncbi.nlm.nih.gov/31570386
https://pubmed.ncbi.nlm.nih.gov/31570386
Autor:
Christine Vianey-Saban, Mohamed A. Nada, Charles R. Roe, Monique Mathieu, Rebecca S. Wappner, Julie A. Mcglynn, Jia-Huan Ding, Martin G. Bialer, Ginette Mandon
Publikováno v:
Prenatal Diagnosis. 16:117-124
Amniocytes isolated from two pregnancies at risk for fatty acid oxidation defects were incubated with stable isotopically labelled palmitate, in the presence of L-carnitine, to probe that pathway. The labelled acylcarnitines were then quantitated usi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3f87c7fd70f6c9c62c52de1c4b5271f
https://doi.org/10.1002/(sici)1097-0223(199602)16:2<117::aid-pd820>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199602)16:2<117::aid-pd820>3.0.co