Optical coherence tomography features of a tumour of the follicular infundibulum von Koutsis, James J., Cachia, Adrian R., Guitera, Pascale A., Martin, Linda K.

Volltext

Optical coherence tomography features of a tumour of the follicular infundibulum von Koutsis, James J, Cachia, Adrian R, Guitera, Pascale A, Martin, Linda K

Volltext

NKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network von Anderson, David J., Kaplan, David I., Bell, Katrina M., Koutsis, Katerina, Haynes, John M., Mills, Richard J., Phelan, Dean G., Qian, Elizabeth L., Leitoguinho, Ana Rita, Arasaratnam, Deevina, Labonne, Tanya, Ng, Elizabeth S., Davis, Richard P., Casini, Simona, Passier, Robert, Hudson, James E., Porrello, Enzo R., Costa, Mauro W., Rafii, Arash, Curl, Clare L., Delbridge, Lea M., Harvey, Richard P., Oshlack, Alicia, Cheung, Michael M., Mummery, Christine L., Petrou, Stephen, Elefanty, Andrew G., Stanley, Edouard G., Elliott, David A.

Volltext

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation von Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zamba‐Papanicolaou, Eleni, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Kernohan, Kristin D., Eaton, Alison, Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Zetterberg, Henrik, Heales, Simon J. R., Rothman, James E., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Pineda‐Marfa, Mercedes, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Boles, Richard, Giunti, Paola, Chelban, Viorica, Salpietro, Vincenzo, Efthymiou, Stephanie, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Papanicolaou, Eleni Zamba, Maqbool, Shazia, Rana, Nuzhat Noureen, Atawneh, Osama, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Dauvilliers, Yves A., Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Wahab, Kolawole, Bello, Abiodun H., Obiabo, Yahaya, Nwazor, Ernest, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Isrofilov, Maksud, Khachatryan, Samson, Silvestri, Gabriella, Bourinaris, Thomas, Fidani, Liana

Volltext

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination von Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry

Volltext

The role of cardiac transcription factor NKX2-5 in regulating the human cardiac miRNAome von Arasaratnam, Deevina, Bell, Katrina M., Sim, Choon Boon, Koutsis, Kathy, Anderson, David J., Qian, Elizabeth L., Stanley, Edouard G., Elefanty, Andrew G., Cheung, Michael M., Oshlack, Alicia, White, Anthony J., Abi Khalil, Charbel, Hudson, James E., Porrello, Enzo R., Elliott, David A.

Volltext

Publisher Correction: The role of cardiac transcription factor NKX2-5 in regulating the human cardiac miRNAome von Arasaratnam, Deevina, Bell, Katrina M., Sim, Choon Boon, Koutsis, Kathy, Anderson, David J., Qian, Elizabeth L., Stanley, Edouard G., Elefanty, Andrew G., Cheung, Michael M., Oshlack, Alicia, White, Anthony J., Abi Khalil, Charbel, Hudson, James E., Porrello, Enzo R., Elliott, David A.

Volltext

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease von Koutsis, Georgios, Pandraud, Amelie, Polke, James M, Wood, Nicholas W, Panas, Marios, Karadima, Georgia, Houlden, Henry

Volltext