Canlyniadau Chwilio - Baranano, Kristin W

The Ketogenic Diet: Uses in Epilepsy and Other Neurologic Illnesses gan Barañano, Kristin W., Hartman, Adam L.

Cael y testun llawn Cael y testun llawn

Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form gan Mu, Weiyi, Heller, Teresa, Barañano, Kristin W

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1 gan Mu, Weiyi, Tochen, Laura, Bertsch, Caroline, Singer, Harvey S, Barañano, Kristin W

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Relapsing–remitting clinical course expands the phenotype of Aicardi–Goutières syndrome gan Lambe, Jeffrey, Murphy, Olwen C., Mu, Weiyi, Sondergaard Schatz, Krista, Barañano, Kristin W., Venkatesan, Arun

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Acceleration and Plateau: Two patterns and outcomes of isolated severe fetal cerebral ventricular dilation. gan Ge, Christina J., Polan, Rosa M., Baranano, Kristin W., Burd, Irina, Baschat, Ahmet A., Blakemore, Karin J., Ahn, Edward S., Jelin, Eric B., Jelin, Angie C.

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Posterior neocortex-specific regulation of neuronal migration by CEP85L identifies maternal centriole dependent activation of CDK5 gan Kodani, Andrew, Kenny, Connor, Lai, Abbe, Gonzalez, Dilenny M, Stronge, Edward, Sejourne, Gabrielle M, Isacco, Laura, Partlow, Jennifer N, O’Donnell, Anne, McWalter, Kirsty, Byrne, Alicia B, Barkovich, A James, Yang, Edward, Hill, R Sean, Gawlinski, Pawel, Wiszniewski, Wojciech, Cohen, Julie S, Fatemi, S Ali, Baranano, Kristin W, Sahin, Mustafa, Vossler, David G, Yuskaitis, Christopher J., Walsh, Christopher A.

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation gan Beck, David B., Basar, Mohammed A., Asmar, Anthony J., Thompson, Joyce J., Oda, Hirotsugu, Uehara, Daniela T., Saida, Ken, Pajusalu, Sander, Talvik, Inga, D’Souza, Precilla, Bodurtha, Joann, Mu, Weiyi, Barañano, Kristin W., Miyake, Noriko, Wang, Raymond, Kempers, Marlies, Tamada, Tomoko, Nishimura, Yutaka, Okada, Satoshi, Kosho, Tomoki, Dale, Ryan, Mitra, Apratim, Macnamara, Ellen, Matsumoto, Naomichi, Inazawa, Johji, Walkiewicz, Magdalena, Õunap, Katrin, Tifft, Cynthia J., Aksentijevich, Ivona, Kastner, Daniel L., Rocha, Pedro P., Werner, Achim

Cael y testun llawn Cael y testun llawn Cael y testun llawn

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism gan Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms gan Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.

Cael y testun llawn Cael y testun llawn Cael y testun llawn

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus gan Galosi, Serena, Edani, Ban H, Martinelli, Simone, Hansikova, Hana, Eklund, Erik A, Caputi, Caterina, Masuelli, Laura, Corsten-Janssen, Nicole, Srour, Myriam, Oegema, Renske, Bosch, Daniëlle G M, Ellis, Colin A, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isis, Averdunk, Luisa, Barañano, Kristin W, Bei, Roberto, Bagnasco, Irene, Brusco, Alfredo, Demarest, Scott, Alaix, Anne-Sophie, Di Bonaventura, Carlo, Distelmaier, Felix, Elmslie, Frances, Gan-Or, Ziv, Good, Jean-Marc, Gripp, Karen, Kamsteeg, Erik-Jan, Macnamara, Ellen, Marcelis, Carlo, Mercier, Noëlle, Peeden, Joseph, Pizzi, Simone, Pannone, Luca, Shinawi, Marwan, Toro, Camilo, Verbeek, Nienke E, Venkateswaran, Sunita, Wheeler, Patricia G, Zdrazilova, Lucie, Zhang, Rong, Zorzi, Giovanna, Guerrini, Renzo, Sessa, William C, Lefeber, Dirk J, Tartaglia, Marco, Hamdan, Fadi F, Grabińska, Kariona A, Leuzzi, Vincenzo

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts gan Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yohann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O’Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E.G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, van der Knaap, Marjo S., Livingston, John H., O’Keefe, Raymond T., Crow, Yanick J.

Cael y testun llawn Cael y testun llawn Cael y testun llawn