Correction: A survey of the Desulfuromonadia “cytochromome” provides a glimpse of the unexplored diversity of multiheme cytochromes in nature von Soares, Ricardo, Fonseca, Bruno M, Nash, Benjamin W, Paquete, Catarina M, Louro, Ricardo O

Volltext

A survey of the Desulfuromonadia "cytochromome" provides a glimpse of the unexplored diversity of multiheme cytochromes in nature von Soares, Ricardo, Fonseca, Bruno M, Nash, Benjamin W, Paquete, Catarina M, Louro, Ricardo O

Volltext

Tethered heme domains in a triheme cytochrome allow for increased electron transport distances von Nash, Benjamin W., Fernandes, Tomás M., Burton, Joshua A. J., Morgado, Leonor, Wonderen, Jessica H., Svistunenko, Dimitri A., Edwards, Marcus J., Salgueiro, Carlos A., Butt, Julea N., Clarke, Thomas A.

Volltext

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies von Nash, Benjamin M, Ma, Alan, Ho, Gladys, Farnsworth, Elizabeth, Minoche, Andre E, Cowley, Mark J, Barnett, Christopher, Smith, Janine M, Loi, To Ha, Wong, Karen, St Heaps, Luke, Wright, Dale, Dinger, Marcel E, Bennetts, Bruce, Grigg, John R, Jamieson, Robyn V

Volltext

Revealing hidden genetic diagnoses in the ocular anterior segment disorders von Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.

Volltext

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant von Sandaradura, Sarah A., Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B., Waddell, Leigh B., Jones, Kristi J., Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M., Peters, Gregory B., Algar, Elizabeth M., MacArthur, Daniel G., North, Kathryn N., Brammah, Susan, Charlton, Amanda, Laing, Nigel G., Wilson, Meredith J., Davis, Mark R., Cooper, Sandra T.

Volltext

Natural history and biomarkers of KCNV2‐associated retinopathy von Sakti, Dhimas H., Cornish, Elisa E., Ali, Haipha, Retsas, Stephanie, Raza, Marium, Saakova, Nonna, Carvalho, Livia S., Nash, Benjamin M., Jamieson, Robyn V., Grigg, John R.

Volltext

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment von Nash, Benjamin M., Watson, Christopher J. G., Hughes, Edward, Hou, Alec L., Loi, To Ha, Bennetts, Bruce, Jelovic, Diana, Polkinghorne, Philip J., Gorbatov, Mark, Grigg, John R., Vincent, Andrea L., Jamieson, Robyn V.

Volltext

Genome sequencing in congenital cataracts improves diagnostic yield von Ma, Alan, Grigg, John R., Flaherty, Maree, Smith, James, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Slater, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Brown, Natasha J., Leighton, Sarah E., Amor, David J., Goel, Himanshu, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.

Volltext

NMNAT1 variants cause cone and cone-rod dystrophy von Nash, Benjamin M, Symes, Richard, Goel, Himanshu, Dinger, Marcel E, Bennetts, Bruce, Grigg, John R, Jamieson, Robyn V

Volltext

Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging von Sakti, Dhimas H., Cornish, Elisa E., Fraser, Clare L., Nash, Benjamin M., Sandercoe, Trent M., Jones, Michael M., Rowe, Neil A., Jamieson, Robyn V., Johnson, Alexandra M., Grigg, John R.

Volltext

Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells von Nash, Benjamin M., Loi, To Ha, Fernando, Milan, Sabri, Amin, Robinson, James, Cheng, Anson, Eamegdool, Steven S., Farnsworth, Elizabeth, Bennetts, Bruce, Grigg, John R., Chung, Seo-Kyung, Gonzalez-Cordero, Anai, Jamieson, Robyn V.

Volltext

Genetic Code Expansion in Shewanella oneidensis MR‑1 Allows Site-Specific Incorporation of Bioorthogonal Functional Groups into a c‑Type Cytochrome von Lockwood, Colin W. J., Nash, Benjamin W., Newton-Payne, Simone E., van Wonderen, Jessica H., Whiting, Keir P. S., Connolly, Abigail, Sutton-Cook, Alexander L., Crook, Archie, Aithal, Advait R., Edwards, Marcus J., Clarke, Thomas A., Sachdeva, Amit, Butt, Julea N.

Volltext

Retinal dystrophies, genomic applications in diagnosis and prospects for therapy von Nash, Benjamin M, Wright, Dale C, Grigg, John R, Bennetts, Bruce, Jamieson, Robyn V

Volltext

Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability von Chahine Karam, Fidelle, Loi, To Ha, Ma, Alan, Nash, Benjamin M, Grigg, John R, Parekh, Darshan, Riley, Lisa G, Farnsworth, Elizabeth, Bennetts, Bruce, Gonzalez-Cordero, Anai, Jamieson, Robyn V

Volltext

Molecular genetic studies of complete hydatidiform moles von Carey, Louise, Nash, Benjamin M, Wright, Dale C

Volltext

Characterisation of PgcA, a novel respiratory mineral reductase from Geobacter sulfurreducens von Nash, Benjamin W., Edwards, Marcus J., Butt, Julea N., Clarke, Thomas A.

Volltext

A call for caution: 'stop that' sentiments threaten tic research, healthcare and advocacy von Conelea, Christine A, Bervoets, Jo, Bethan Davies, E, Varner, Karolin, Malli, Melina, Jones, Daniel P, Beljaars, Diana, Nash, Benjamin, Capriotti, Matthew R

Volltext

Use of virtual reality to support nuclear decommissioning von Nash, Benjamin

Volltext bestellen

SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory von Ngo, Con, Baluyot, Maria, Bennetts, Bruce, Carmichael, Johanna, Clark, Alissa, Darmanian, Artur, Gayagay, Thet, Jones, Luke, Nash, Benjamin, Clark, Melanie, Jose, Ngaire, Robinson, Samantha, St Heaps, Luke, Wright, Dale

Volltext