نتائج البحث - Stockton, David W.

Management of COVID‐19 infection in organic acidemias حسب Kaur, Shagun, Campbell, Stephanie L., Stockton, David W.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy حسب Sen, Kuntal, Kaur, Shagun, Stockton, David W., Nyhuis, Mary, Roberson, Jacquelyn

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis حسب Wiszniewski, Wojciech, Lewis, Richard Alan, Stockton, David W., Peng, Jianlan, Mardon, Graeme, Chen, Rui, Lupski, James R.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Terminal Osseous Dysplasia with Pigmentary Defects Maps to Human Chromosome Xq27.3-Xqter حسب Zhang, Wenzheng, Amir, Ruthie, Stockton, David W., Van den Veyver, Ignatia B., Bacino, Carlos A., Zoghbi, Huda Y.

احصل على النص الكامل احصل على النص الكامل

Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees حسب Katsanis, Nicholas, Lewis, Richard A., Stockton, David W., Mai, Phuong M. T., Baird, Lisa, Beales, Philip L., Leppert, Mark, Lupski, James R.

احصل على النص الكامل احصل على النص الكامل

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit حسب Gordeuk, Victor R., Miasnikova, Galina Y., Sergueeva, Adelina I., Lorenzo, Felipe R., Zhang, Xu, Song, Jihyun, Stockton, David W., Prchal, Josef T.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1 حسب Eichers, Erica R., Green, Jane S., Stockton, David W., Jackman, Christopher S., Whelan, James, McNamara, J. Arch, Johnson, Gordon J., Lupski, James R., Katsanis, Nicholas

احصل على النص الكامل احصل على النص الكامل

Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses حسب Kazi, Zoheb B., Prater, Sean N., Kobori, Joyce A., Viskochil, David, Bailey, Carrie, Gera, Renuka, Stockton, David W., McIntosh, Paul, Rosenberg, Amy S., Kishnani, Priya S.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment star... حسب Stockton, David W., Kishnani, Priya, van der Ploeg, Ans, Llerena, Juan, Boentert, Matthias, Roberts, Mark, Byrne, Barry J., Araujo, Roberto, Maruti, Sonia S., Thibault, Nathan, Verhulst, Karien, Berger, Kenneth I.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3 حسب Beck, Tyler F., Shchelochkov, Oleg A., Yu, Zhiyin, Kim, Bum Jun, Hernández-García, Andrés, Zaveri, Hitisha P., Bishop, Colin, Overbeek, Paul A., Stockton, David W., Justice, Monica J., Scott, Daryl A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions حسب Kim, Bum Jun, Zaveri, Hitisha P., Shchelochkov, Oleg A., Yu, Zhiyin, Hernández-García, Andrés, Seymour, Michelle L., Oghalai, John S., Pereira, Fred A., Stockton, David W., Justice, Monica J., Lee, Brendan, Scott, Daryl A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS حسب Mendoza-Londono, Roberto , Lammer, Edward , Watson, Rosemarie , Harper, John , Hatamochi, Atsushi , Hatamochi-Hayashi, Saori , Napierala, Dobrawa , Hermanns, Pia , Collins, Sinead , Roa, Benjamin B. , Hedge, Madhuri R. , Wakui, Keiko , Nguyen, Diep , Stockton, David W. , Lee, Brendan 

احصل على النص الكامل احصل على النص الكامل

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease حسب Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, Hahn, Si Houn

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice حسب Beck, Tyler F., Veenma, Danielle, Shchelochkov, Oleg A., Yu, Zhiyin, Kim, Bum Jun, Zaveri, Hitisha P., van Bever, Yolande, Choi, Sunju, Douben, Hannie, Bertin, Terry K., Patel, Pragna I., Lee, Brendan, Tibboel, Dick, de Klein, Annelies, Stockton, David W., Justice, Monica J., Scott, Daryl A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice حسب Beck, Tyler F, Veenma, Danielle, Shchelochkov, Oleg A, Yu, Zhiyin, Kim, Bum Jun, Zaveri, Hitisha P, van Bever, Yolande, Choi, Sunju, Douben, Hannie, Bertin, Terry K, Patel, Pragna I, Lee, Brendan, Tibboel, Dick, de Klein, Annelies, Stockton, David W, Justice, Monica J, Scott, Daryl A

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome حسب McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants حسب Girirajan, Santhosh, Rosenfeld, Jill A., Coe, Bradley P., Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A., McConnell, Juliann S., Angle, Brad, Meschino, Wendy S., Nezarati, Marjan M., Asamoah, Alexander, Jackson, Kelly E., Gowans, Gordon C., Martin, Judith A., Carmany, Erin P., Stockton, David W., Schnur, Rhonda E., Penney, Lynette S., Martin, Donna M., Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M., Escobar, Luis F., El-Khechen, Dima, Johnson, Kisha D., Lebel, Robert R., Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K., Spence, J. Edward, Martin, Laura S., Clericuzio, Carol, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 حسب Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 حسب Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل