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List of works by Louise C. Pyle

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development

scientific article published on 25 May 2017

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

scientific article published on 16 July 2020

Activation of the cystic fibrosis transmembrane conductance regulator by the flavonoid quercetin: potential use as a biomarker of ΔF508 cystic fibrosis transmembrane conductance regulator rescue

scientific article published on 30 December 2009

Amphotropic or gibbon ape leukemia virus retrovirus binding and transduction correlates with the level of receptor mRNA in human hematopoietic cell lines

scientific article

Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop

scientific article

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

scientific article

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants

scientific article published on 23 December 2020

Genetic changes associated with testicular cancer susceptibility

scientific article published on 20 September 2016

Lower abdominal and pelvic radiation and testicular germ cell tumor risk

scientific article published on 11 November 2020

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

scientific article

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency

scientific article published on 5 May 2016

Ovotestis in Adolescence: 2 Case Reports

scholarly article by Jyoti D Chouhan et al published July 2017 in Urology

Regulatory domain phosphorylation to distinguish the mechanistic basis underlying acute CFTR modulators

scientific article

Response to van Rijt et al

scientific article published on 22 September 2016

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

scientific article

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