Søgeresultater - Marsh, Ashley PL

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency af Amor, David J., Marsh, Ashley P.L., Storey, Elsdon, Tankard, Rick, Gillies, Greta, Delatycki, Martin B., Pope, Kate, Bromhead, Catherine, Leventer, Richard J., Bahlo, Melanie, Lockhart, Paul J.

Få fuldtekst Få fuldtekst Få fuldtekst

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR af Leventer, Richard J., Scerri, Thomas, Marsh, Ashley P.L., Pope, Kate, Gillies, Greta, Maixner, Wirginia, MacGregor, Duncan, Harvey, A. Simon, Delatycki, Martin B., Amor, David J., Crino, Peter, Bahlo, Melanie, Lockhart, Paul J.

Få fuldtekst Få fuldtekst Få fuldtekst

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss af Marsh, Ashley P.L., Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M., Yiu, Eppie M., Sim, Joe C.H., Delatycki, Martin B., Amor, David J., McGillivray, George, Sherr, Elliott H., Bahlo, Melanie, Leventer, Richard J., Lockhart, Paul J.

Få fuldtekst Få fuldtekst Få fuldtekst

DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation af Morcom, Laura, Gobius, Ilan, Marsh, Ashley PL, Suárez, Rodrigo, Lim, Jonathan WC, Bridges, Caitlin, Ye, Yunan, Fenlon, Laura R, Zagar, Yvrick, Douglass, Amelia M, Donahoo, Amber-Lee S, Fothergill, Thomas, Shaikh, Samreen, Kozulin, Peter, Edwards, Timothy J, Cooper, Helen M, Sherr, Elliott H, Chédotal, Alain, Leventer, Richard J, Lockhart, Paul J, Richards, Linda J

Få fuldtekst Få fuldtekst Få fuldtekst

DCC mutation update: congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome af Marsh, Ashley PL, Edwards, Timothy J, Galea, Charles, Cooper, Helen M, Engle, Elizabeth C, Jamuar, Saumya S, Méneret, Aurélie, Moutard, Marie-Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer-Smith, Megan, Trouillard, Oriane, de Villemeur, Thierry Billette, Walsh, Christopher A, Yu, Timothy W, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, Lockhart, Paul J

Få fuldtekst Få fuldtekst Få fuldtekst

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology af Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.

Få fuldtekst Få fuldtekst Få fuldtekst

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss af Richard, Elodie M., Bakhtiari, Somayeh, Marsh, Ashley P.L., Kaiyrzhanov, Rauan, Wagner, Matias, Shetty, Sheetal, Pagnozzi, Alex, Nordlie, Sandra M., Guida, Brandon S., Cornejo, Patricia, Magee, Helen, Liu, James, Norton, Bethany Y., Webster, Richard I., Worgan, Lisa, Hakonarson, Hakon, Li, Jiankang, Guo, Yiran, Jain, Mahim, Blesson, Alyssa, Rodan, Lance H., Abbott, Mary-Alice, Comi, Anne, Cohen, Julie S., Alhaddad, Bader, Meitinger, Thomas, Lenz, Dominic, Ziegler, Andreas, Kotzaeridou, Urania, Brunet, Theresa, Chassevent, Anna, Smith-Hicks, Constance, Ekstein, Joseph, Weiden, Tzvi, Hahn, Andreas, Zharkinbekova, Nazira, Turnpenny, Peter, Tucci, Arianna, Yelton, Melissa, Horvath, Rita, Gungor, Serdal, Hiz, Semra, Oktay, Yavuz, Lochmuller, Hanns, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Amenta, Simona, Husain, Ralf A., Grossmann, Benita, Rapp, Marion, Steen, Claudia, Marquardt, Iris, Grimmel, Mona, Grasshoff, Ute, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Radio, Francesca Clementina, Mancini, Cecilia, Claps Sepulveda, Dianela Judith, McWalter, Kirsty, Begtrup, Amber, Crunk, Amy, Guillen Sacoto, Maria J., Person, Richard, Schnur, Rhonda E., Mancardi, Maria Margherita, Kreuder, Florian, Striano, Pasquale, Zara, Federico, Chung, Wendy K., Marks, Warren A., van Eyk, Clare L., Webber, Dani L., Corbett, Mark A., Harper, Kelly, Berry, Jesia G., MacLennan, Alastair H., Gecz, Jozef, Tartaglia, Marco, Salpietro, Vincenzo, Christodoulou, John, Kaslin, Jan, Padilla-Lopez, Sergio, Bilguvar, Kaya, Munchau, Alexander, Ahmed, Zubair M., Hufnagel, Robert B., Fahey, Michael C., Maroofian, Reza, Houlden, Henry, Sticht, Heinrich, Mane, Shrikant M., Rad, Aboulfazl, Vona, Barbara, Jin, Sheng Chih, Haack, Tobias B., Makowski, Christine, Hirsch, Yoel, Riazuddin, Saima, Kruer, Michael C.

Få fuldtekst Få fuldtekst Få fuldtekst