檢索結果 - Leon, Eyby

Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature 由 Bosfield, Kerri, Diaz, Jullianne, Leon, Eyby

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Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction 由 Beck, David B., Cusmano-Ozog, Kristina, Andescavage, Nickie, Leon, Eyby

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RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation 由 Flore, Leigh Anne, Leon, Eyby, Maher, Tom A., Milunsky, Jeff M.

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Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype 由 Ward, David Isum, Buckley, Bethany A., Leon, Eyby, Diaz, Jullianne, Galegos, Margaret Faust, Hofherr, Sean, Lewanda, Amy Feldman

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Expansion of the TARP Syndrome Phenotype Associated with De Novo Mutations and Mosaicism 由 Johnston, Jennifer J., Sapp, Julie C., Curry, Cynthia, Horton, Margaret, Leon, Eyby, Cusmano-Ozog, Kristina, Dobyns, William B., Hudgins, Louanne, Zackai, Elaine, Biesecker, Leslie G.

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Mutations in NOTCH1 Cause Adams-Oliver Syndrome 由 Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelinda Santos, Dixon, Joanne, Leon, Eyby L., Solomon, Benjamin D., Glusman, Gustavo, Niederhuber, John E., Roach, Jared C., Patel, Millan S.

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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency 由 Alston, Charlotte L., Veling, Mike T., Heidler, Juliana, Taylor, Lucie S., Alaimo, Joseph T., Sung, Andrew Y., He, Langping, Hopton, Sila, Broomfield, Alexander, Pavaine, Julija, Diaz, Jullianne, Leon, Eyby, Wolf, Philipp, McFarland, Robert, Prokisch, Holger, Wortmann, Saskia B., Bonnen, Penelope E., Wittig, Ilka, Pagliarini, David J., Taylor, Robert W.

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Hyperinsulinemic Hypoglycemia in Seven Patients with de novo NSD1 Mutations 由 Grand, Katheryn, Gonzalez-Gandolfi, Christina, Ackermann, Amanda M., Aljeaid, Deema, Bedoukian, Emma, Bird, Lynne M., De Leon, Diva D., Diaz, Jullianne, Hopkin, Robert J., Kadakia, Sejal P., Keena, Beth, Klein, Karen O., Krantz, Ian, Leon, Eyby, Lord, Katherine, McDougall, Carey, Medne, Livija, Skraban, Cara M., Stanley, Charles A., Tarpinian, Jennifer, Zackai, Elaine, Deardorff, Matthew A., Kalish, Jennifer M.

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Spectrum of K(V)2.1 Dysfunction in KCNB1-associated Neurodevelopmental Disorders 由 Kang, Seok Kyu, Vanoye, Carlos G., Misra, Sunita N., Echevarria, Dennis M., Calhoun, Jeffrey D., O’Connor, John B., Fabre, Katarina L., McKnight, Dianalee, Demmer, Laurie, Goldenberg, Paula, Grote, Lauren E., Thiffault, Isabelle, Saunders, Carol, Strauss, Kevin A., Torkamani, Ali, van der Smagt, Jasper, van Gassen, Koen, Carson, Robert P., Diaz, Jullianne, Leon, Eyby, Jacher, Joseph E., Hannibal, Mark C., Litwin, Jessica, Friedman, Neil R., Schreiber, Allison, Lynch, Bryan, Poduri, Annapurna, Marsh, Eric D., Goldberg, Ethan M., Millichap, John J., George, Alfred L., Kearney, Jennifer A.

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Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly 由 Chai, Guoliang, Webb, Alice, Li, Chen, Antaki, Danny, Lee, Sangmoon, Breuss, Martin W., Lang, Nhi, Stanley, Valentina, Anzenberg, Paula, Yang, Xiaoxu, Marshall, Trevor, Gaffney, Patrick, Wierenga, Klaas J., Hon-Yin Chung, Brian, Ho-Yin Tsang, Mandy, Pais, Lynn S., Kern Lovgren, Alysia, VanNoy, Grace E., Rehm, Heidi L., Mirzaa, Ghayda, Leon, Eyby, Diaz, Jullianne, Neumann, Alexander, Kalverda, Arnout P., Manfield, Iain W., Parry, David A., Logan, Clare V., Johnson, Colin A., Bonthron, David T., Valleley, Elizabeth MA, Issa, Mahmoud Y., AbdelGhafar, Sherif F., Abdel-Hamid, Mohamed S., Jennings, Patricia, Zaki, Maha S., Sheridan, Eamonn, Gleeson, Joseph G.

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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies 由 Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison, Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei

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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity 由 Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Piatek, Stefan G., Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aimé, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E., Palmer, Elizabeth E., Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amali, Vogt, Julie, de Munnik, Sonja A., Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Gonçalves, Ana R., Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L., Faivre, Laurence, Riviere, Jean-Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Sacoto, Maria J. Guillen, Douglas, Ganka, Alexander, Nora, Buckley, Michael F., Mark, Paul R., Adès, Lesley C., Sandaradura, Sarah A., Lupski, James R., Roscioli, Tony, Agrawal, Pankaj B., Kline, Antonie D., Wang, Kai, Timmers, H. T. Marc, Lyon, Gholson J.

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Cornelia de Lange Syndrome in Diverse Populations 由 Dowsett, Leah, Porras, Antonio R., Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow-Keong, Leon, Eyby, Girisha, Katta M., Shukla, Anju, Nayak, Shalini S., Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D., Dissanayake, Vajira H.W., Ferreira, Carlos R., Kisling, Monisha S., Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo-Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti-Ferreira, Danilo, Stevenson, Roger E., Prijoles, Eloise J., Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hasama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D., Bird, Lynne, Masser-Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane-Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D.

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