Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
Vermeer, Mathilde C.S.C., Al‐Shinnag, Mohammad, Silljé, Herman H.W., Gaytan, Antonio Esquivel, Murrell, Dedee F., McGaughran, Julie, Melbourne, Wei, Cowan, Timothy, Akker, Peter C., Spaendonck‐Zwarts, Karin Y., Meer, Peter, Bolling, Maria C.
Published in British journal of dermatology (1951) (01.12.2022)
Published in British journal of dermatology (1951) (01.12.2022)
Get full text
Journal Article
Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes
Al-Shinnag, Mohammad, Marfan, Helen, Susman, Rachel, Wakeling, Jan, Gustafson, Sonja, Wood, Simon, Mallett, Andrew John
Published in Frontiers in oncology (16.09.2021)
Published in Frontiers in oncology (16.09.2021)
Get full text
Journal Article
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
Davidson, Aimee L., Dressel, Uwe, Norris, Sarah, Canson, Daffodil M., Glubb, Dylan M., Fortuno, Cristina, Hollway, Georgina E., Parsons, Michael T., Vidgen, Miranda E., Holmes, Oliver, Koufariotis, Lambros T., Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E., Pickett, Hilda A., Al-Shinnag, Mohammad K., Austin, Rachel L., Burke, Jo, Cops, Elisa J., Nichols, Cassandra B., Goodwin, Annabel, Harris, Marion T., Higgins, Megan J., Ip, Emilia L., Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L., Millward, Michael W., Monnik, Melissa J., Pachter, Nicholas S., Ragunathan, Abiramy, Susman, Rachel D., Townshend, Sharron L., Trainer, Alison H., Troth, Simon L., Tucker, Katherine M., Wallis, Mathew J., Walsh, Maie, Williams, Rachel A., Winship, Ingrid M., Newell, Felicity, Tudini, Emma, Pearson, John V., Poplawski, Nicola K., Mar Fan, Helen G., James, Paul A., Spurdle, Amanda B., Waddell, Nicola, Ward, Robyn L.
Published in Genome medicine (19.09.2023)
Published in Genome medicine (19.09.2023)
Get full text
Journal Article
The role of perinatal phenotyping in confirming the molecular diagnosis of congenital dyseryhtropoietic anaemia type I (CDA1) – a case report
Al-shinnag, Mohammad, Forwood, Caitlin, Walsh, Rebecca, Josephi-Taylor, Sarah, Wilson, Alyssa, Zhang, Futao, Zhu, Ying, Moghimi, Ali, Buckley, Michael F., Roscioli, Tony
Published in Pathology (01.02.2023)
Published in Pathology (01.02.2023)
Get full text
Journal Article