Výsledky vyhledávání - Marble, Michael

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenita... Autor Umrigar, Ayesha, Musso, Amanda, Mercer, Danielle, Hurley, Annette, Glausier, Cassondra, Bakeer, Mona, Marble, Michael, Hicks, Chindo, Tsien, Fern

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Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate Autor Sahoo, Trilochan, Theisen, Aaron, Sanchez-Lara, Pedro A., Marble, Michael, Schweitzer, Daniela N., Torchia, Beth S., Lamb, Allen N., Bejjani, Bassem A., Shaffer, Lisa G., Lacassie, Yves

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Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development Autor Urban, Zsolt, Hucthagowder, Vishwanathan, Schürmann, Nura, Todorovic, Vesna, Zilberberg, Lior, Choi, Jiwon, Sens, Carla, Brown, Chester W., Clark, Robin D., Holland, Kristen E., Marble, Michael, Sakai, Lynn Y., Dabovic, Branka, Rifkin, Daniel B., Davis, Elaine C.

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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly Autor Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A, Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Autor Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O’Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Rahman, Omar A, Atkin, Joan F, Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew E, Fryns, Jean-Pierre, Gripp, Karen W, Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M S, Nowaczyk, Małgorzata J M, van Ravenswaaij-Arts, Conny M A, Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A, Siu, Victoria M, de Vries, Bert B A, Shendure, Jay, Verloes, Alain, Veltman, Joris A, Brunner, Han G, Ross, M Elizabeth, Pilz, Daniela T, Dobyns, William B

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism Autor 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

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