Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes

Yazar: Spinelli, Laura, Black, Fiona M, Berg, Jonathan N, Eickholt, Britta J, Leslie, Nicholas R
Yayımlandı J Med Genet (2015)

Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer

Yazar: Ibrahim, Abdulla, Barnes, Daniel R, Dunlop, Jacqueline, Barrowdale, Daniel, Antoniou, Antonis C, Berg, Jonathan N
Baskı/Yayın Bilgisi 2014

Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease

Yazar: Newey, Paul J., Berg, Jonathan N., Zhou, Kaixin, Palmer, Colin N.A., Thakker, Rajesh V.
Yayımlandı J Endocr Soc (2017)

Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL)

Yazar: Maniam, Pavithran, Zhou, Kaixin, Lonergan, Mike, Berg, Jonathan N, Goudie, David R, Newey, Paul J
Yayımlandı J Endocr Soc (2018)

Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort

Yazar: Littlejohn, Lucy A., Gibbs, Jim, Jordan, Lee B., Miedzybrodzka, Zosia H., Bell, Christine, Goudie, David, Dunlop, Jacqueline, Berg, Jonathan N.
Yayımlandı Eur J Hum Genet (2018)

FGFR2 protein expression in breast cancer: nuclear localisation and correlation with patient genotype

Yazar: Martin, Amy J, Grant, Andrew, Ashfield, Alison M, Palmer, Colin N, Baker, Lee, Quinlan, Philip R, Purdie, Colin A, Thompson, Alastair M, Jordan, Lee B, Berg, Jonathan N
Baskı/Yayın Bilgisi 2011

Genome-wide association study of sporadic brain arteriovenous malformations

Yazar: Weinsheimer, Shantel, Bendjilali, Nasrine, Nelson, Jeffrey, Guo, Diana E., Zaroff, Jonathan G., Sidney, Stephen, McCulloch, Charles E., Salman, Rustam Al-Shahi, Berg, Jonathan N., Koeleman, Bobby P. C., Simon, Matthias, Boström, Azize, Fontanella, Marco, Sturiale, Carmelo L., Pola, Roberto, Puca, Alfredo, Lawton, Michael T., Young, William L., Pawlikowska, Ludmila, Klijn, Catharina J. M., Kim, Helen
Yayımlandı J Neurol Neurosurg Psychiatry (2016)

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Yazar: Eggens, Veerle RC, Barth, Peter G, Niermeijer, Jikke-Mien F, Berg, Jonathan N, Darin, Niklas, Dixit, Abhijit, Fluss, Joel, Foulds, Nicola, Fowler, Darren, Hortobágyi, Tibor, Jacques, Thomas, King, Mary D, Makrythanasis, Periklis, Máté, Adrienn, Nicoll, James AR, O’Rourke, Declan, Price, Sue, Williams, Andrew N, Wilson, Louise, Suri, Mohnish, Sztriha, Laszlo, Dijns-de Wissel, Marit B, van Meegen, Mia T, van Ruissen, Fred, Aronica, Eleonora, Troost, Dirk, Majoie, Charles BLM, Marquering, Henk A, Poll-Thé, Bwee Tien, Baas, Frank
Baskı/Yayın Bilgisi 2014