Arama Sonuçları - Speck-Martins, Carlos E.

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1 Yazar: Carvalho, Daniel R., Speck-Martins, Carlos E., Brum, Jaime M., Ferreira, Carlos R., Sobreira, Nara L. M.

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Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas Yazar: Santos, Savana C. L., Rizzo, Isabela M. P. O., Takata, Reinaldo I., Speck‐Martins, Carlos E., Brum, Jaime M., Sollaci, Claudio

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19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype Yazar: Abe, Kikue Terada, Rizzo, Isabela M. P. O., Coelho, Ana L. V., Sakai, Nilo, Carvalho, Daniel R., Speck‐Martins, Carlos E.

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Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs Yazar: Perez-Siles, Gonzalo, Cutrupi, Anthony, Ellis, Melina, Kuriakose, Jakob, La Fontaine, Sharon, Mao, Di, Uesugi, Motonari, Takata, Reinaldo I., Speck-Martins, Carlos E., Nicholson, Garth, Kennerson, Marina L.

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Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX) Yazar: Perez-Siles, Gonzalo, Grant, Adrienne, Ellis, Melina, Ly, Carolyn, Kidambi, Aditi, Khalil, Mamdouh, Llanos, Roxana M., La Fontaine, Sharon, Strickland, Alleene V., Züchner, Stephan, Bermeo, Sandra, Neist, Elysia, Brennan-Speranza, Tara C., Takata, Reinaldo I., Speck-Martins, Carlos E., Mercer, Julian F.B., Nicholson, Garth A., Kennerson, Marina L.

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Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome Yazar: Telegrafi, Aida, Webb, Bryn D., Robbins, Sarah M., Speck-Martins, Carlos E., FitzPatrick, David, Fleming, Leah, Redett, Richard, Dufke, Andres, Houge, Gunnar, van Harssel, Jeske J.T., Verloes, Alain, Robles, Angela, Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin Wang, Valle, David, Carey, John, Hoover-Fong, Julie E., Sobreira, Nara L.M.

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Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy Yazar: Kennerson, Marina L., Nicholson, Garth A., Kaler, Stephen G., Kowalski, Bartosz, Mercer, Julian F.B., Tang, Jingrong, Llanos, Roxana M., Chu, Shannon, Takata, Reinaldo I., Speck-Martins, Carlos E., Baets, Jonathan, Almeida-Souza, Leonardo, Fischer, Dirk, Timmerman, Vincent, Taylor, Philip E., Scherer, Steven S., Ferguson, Toby A., Bird, Thomas D., De Jonghe, Peter, Feely, Shawna M.E., Shy, Michael E., Garbern, James Y.

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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome Yazar: Di Gioia, Silvio Alessandro, Connors, Samantha, Matsunami, Norisada, Cannavino, Jessica, Rose, Matthew F., Gilette, Nicole M., Artoni, Pietro, de Macena Sobreira, Nara Lygia, Chan, Wai-Man, Webb, Bryn D., Robson, Caroline D., Cheng, Long, Van Ryzin, Carol, Ramirez-Martinez, Andres, Mohassel, Payam, Leppert, Mark, Scholand, Mary Beth, Grunseich, Christopher, Ferreira, Carlos R., Hartman, Tyler, Hayes, Ian M., Morgan, Tim, Markie, David M., Fagiolini, Michela, Swift, Amy, Chines, Peter S., Speck-Martins, Carlos E., Collins, Francis S., Jabs, Ethylin Wang, Bönnemann, Carsten G., Olson, Eric N., Carey, John C., Robertson, Stephen P., Manoli, Irini, Engle, Elizabeth C.

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