المؤلفون: Liu, Yuxi, Yin, Kanhua, Lamichhane, Basanta, Sandbach, John F., Patel, Gayle, Compagnoni, Gia, Kanak, Richard H., Rosen, Barry, Ondrula, David P., Smith, Linda, Brown, Eric, Gold, Linsey, Whitworth, Pat, App, Colleen, Euhus, David, Semine, Alan, Lyons, S. Dwight, Lazarte, Melford Allan C., Parmigiani, Giovanni, Braun, Danielle, Hughes, Kevin S.

مصطلحات موضوعية: Quantitative Biology - Quantitative Methods, Quantitative Biology - Genomics

URL الوصول: http://arxiv.org/abs/1911.08408

المؤلفون: Landrith, Tyler, Li, Bing, Cass, Ashley A., Conner, Blair R., LaDuca, Holly, McKenna, Danielle B., Maxwell, Kara N., Domchek, Susan, Morman, Nichole A., Heinlen, Christopher, Wham, Deborah, Koptiuch, Cathryn, Vagher, Jennie, Rivera, Ragene, Bunnell, Ann, Patel, Gayle, Geurts, Jennifer L., Depas, Morgan M., Gaonkar, Shraddha, Pirzadeh-Miller, Sara, Krukenberg, Rebekah, Seidel, Meredith, Pilarski, Robert, Farmer, Meagan, Pyrtel, Khateriaa, Milliron, Kara, Lee, John, Hoodfar, Elizabeth, Nathan, Deepika, Ganzak, Amanda C., Wu, Sitao, Vuong, Huy, Xu, Dong, Arulmoli, Aarani, Parra, Melissa, Hoang, Lily, Molparia, Bhuvan, Fennessy, Michele, Fox, Susanne, Charpentier, Sinead, Burdette, Julia, Pesaran, Tina, Profato, Jessica, Smith, Brandon, Haynes, Ginger, Dalton, Emily, Crandall, Joy Rae-Radecki, Baxter, Ruth, Lu, Hsiao-Mei, Tippin-Davis, Brigette

المصدر: npj Precision Oncology ; volume 4, issue 1 ; ISSN 2397-768X

الاتاحة: http://dx.doi.org/10.1038/s41698-020-0109-y
https://www.nature.com/articles/s41698-020-0109-y.pdf
https://www.nature.com/articles/s41698-020-0109-y

المؤلفون: Buys, Saundra S., Sandbach, John F., Gammon, Amanda, Patel, Gayle, Kidd, John, Brown, Krystal L., Sharma, Lavania, Saam, Jennifer, Lancaster, Johnathan, Daly, Mary B.

المساهمون: Myriad Genetic Laboratories

المصدر: Cancer ; volume 123, issue 10, page 1721-1730 ; ISSN 0008-543X 1097-0142

الاتاحة: http://dx.doi.org/10.1002/cncr.30498
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fcncr.30498
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cncr.30498
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/cncr.30498

المؤلفون: Lord, Katharine, Smith, Rachel, Boman, Christina, Patel, Gayle, Thatikonda, Srivani, Burnett, Mark, Waldron, James, Kemper, Craig, Weinberg, Jeffrey S, Groves, Morris D

المصدر: Neuro-Oncology ; volume 19, issue suppl_6, page vi100-vi101 ; ISSN 1522-8517 1523-5866

الاتاحة: https://doi.org/10.1093/neuonc/nox168.412
http://academic.oup.com/neuro-oncology/article-pdf/19/suppl_6/vi100/21592079/nox168.412.pdf

المؤلفون: Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.V., Patel, Gayle S., Immken, LaDonna, Aleck, Kyrieckos, Lim, Cynthia, Cheung, Sau Wai, Rosenberg, Carla, Katsanis, Nicholas, Lupski, James R.

المصدر: The American Journal of Human Genetics ; volume 95, issue 5, page 565-578 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2014.10.006
https://api.elsevier.com/content/article/PII:S0002929714004285?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0002929714004285?httpAccept=text/xml

المؤلفون: Witsch, Jens, Szafranski, Przemyslaw, Chen, Chun-An, Immken, LaDonna, Simpson Patel, Gayle, Hixson, Patricia, Cheung, Sau Wai, Stankiewicz, Pawel, Schaaf, Christian P

المصدر: European Journal of Human Genetics ; volume 21, issue 11, page 1304-1307 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2013.42
http://www.nature.com/articles/ejhg201342.pdf
http://www.nature.com/articles/ejhg201342

المؤلفون: Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel

المصدر: Molecular Cytogenetics, Vol 5, Iss 1, p 17 (2012)

مصطلحات موضوعية: 6p deletions, Copy-number variants, Array comparative genomic hybridization, Genetics, QH426-470

Relation: http://www.molecularcytogenetics.org/content/5/1/17; https://doaj.org/toc/1755-8166; https://doaj.org/article/6b33cf3605f24009b5cbbc295234f8e2

الاتاحة: https://doi.org/10.1186/1755-8166-5-17
https://doaj.org/article/6b33cf3605f24009b5cbbc295234f8e2

المؤلفون: El-Hattab, Ayman W, Fang, Ping, Jin, Weihong, Hughes, Jeffrey R, Gibson, James B, Patel, Gayle S, Grange, Dorothy K, Manwaring, Linda P, Patel, Ankita, Stankiewicz, Pawel, Cheung, Sau Wai

مصطلحات موضوعية: Chromosomal rearrangements

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/48/12/840; http://dx.doi.org/10.1136/jmedgenet-2011-100125

الاتاحة: http://jmg.bmj.com/cgi/content/short/48/12/840
https://doi.org/10.1136/jmedgenet-2011-100125

المؤلفون: Yin, Kanhua, Liu, Yuxi, Lamichhane, Basanta, Sandbach, John F, Patel, Gayle, Compagnoni, Gia, Kanak, Richard H, Rosen, Barry, Ondrula, David P, Smith, Linda, Brown, Eric, Gold, Linsey, Whitworth, Pat, App, Colleen, Euhus, David, Semine, Alan, Dwight Lyons, S, Lazarte, Melford Allan C, Parmigiani, Giovanni, Braun, Danielle, Hughes, Kevin S

المصدر: Genetics and Genomics

مصطلحات موضوعية: Genetics and Genomics

Relation: https://institutionalrepository.aah.org/gene/12; https://xk8bg6rv9a.search.serialssolutions.com/?sid=Entrez:PubMed&id=pmid:32342295

الاتاحة: https://institutionalrepository.aah.org/gene/12
https://doi.org/10.1245/s10434-020-08492-9
https://xk8bg6rv9a.search.serialssolutions.com/?sid=Entrez:PubMed&id=pmid:32342295

المؤلفون: Celestino-Soper, Patrícia BS, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata MJ, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, LaDonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau, Beaudet, Arthur L, Stankiewicz, Pawel

مصطلحات موضوعية: 6p deletions, Copy-number variants, Array comparative genomic hybridization

Relation: http://www.molecularcytogenetics.org/content/5/1/17

الاتاحة: http://www.molecularcytogenetics.org/content/5/1/17

المؤلفون: Berryer, Martin H, Hamdan, Fadi F, Klitten, Laura L, Møller, Rikke Steensbjerre, Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde, Lacaille, Jean-Claude, Niu, Zhiyv, Eng, Christine M, Yang, Yaping, Palardy, Sylvain, Belhumeur, Céline, Rouleau, Guy A, Tommerup, Niels, Immken, Ladonna, Beauchamp, Miriam H, Patel, Gayle Simpson, Majewski, Jacek, Tarnopolsky, Mark A, Scheffzek, Klaus, Hjalgrim, Helle, Michaud, Jacques L, Di Cristo, Graziella

المصدر: Berryer , M H , Hamdan , F F , Klitten , L L , Møller , R S , Carmant , L , Schwartzentruber , J , Patry , L , Dobrzeniecka , S , Rochefort , D , Neugnot-Cerioli , M , Lacaille , J-C , Niu , Z , Eng , C M , Yang , Y , Palardy , S , Belhumeur , C , Rouleau , G A , Tommerup , N , Immken , L , Beauchamp , M H , Patel , G S , Majewski , J , Tarnopolsky , M ....

مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Autistic Disorder, Blotting, Western, Child, Preschool, Cloning, Molecular, Epilepsy, Exome, Extracellular Signal-Regulated MAP Kinases, Female, HEK293 Cells, Haploinsufficiency, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Missense, Phenotype, Phosphorylation, Protein Conformation, Sequence Analysis, DNA, Transfection, ras GTPase-Activating Proteins, SYNGAP1, Autism

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/8334075e-634f-47ad-8b17-00ec987ec757
https://doi.org/10.1002/humu.22248

المؤلفون: Qidwai, Kanwal, Pearson, David M., Patel, Gayle Simpson, Pober, Barbara R., Immken, LaDonna L., Cheung, Sau Wai, Scott, Daryl A.

المصدر: American Journal of Medical Genetics Part A ; volume 152A, issue 6, page 1588-1590 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.33410
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33410
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33410

المؤلفون: Shinawi, Marwan, Schaaf, Christian P, Bhatt, Samarth S, Xia, Zhilian, Patel, Ankita, Cheung, Sau Wai, Lanpher, Brendan, Nagl, Sandra, Herding, Heinrich Stephan, Nevinny-Stickel, Claudia, Immken, LaDonna L, Patel, Gayle Simpson, German, Jennifer Ruth, Beaudet, Arthur L, Stankiewicz, Pawel

المصدر: Nature Genetics ; volume 41, issue 12, page 1269-1271 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/ng.481
http://www.nature.com/articles/ng.481.pdf
http://www.nature.com/articles/ng.481

المؤلفون: El-Hattab, Ayman W., Smolarek, Teresa A., Walker, Martha E., Schorry, Elizabeth K., Immken, LaDonna L., Patel, Gayle, Abbott, Mary-Alice, Lanpher, Brendan C., Ou, Zhishuo, Kang, Sung-Hae L., Patel, Ankita, Scaglia, Fernando, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel

المصدر: Human Genetics ; volume 126, issue 4, page 589-602 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s00439-009-0706-x
http://link.springer.com/content/pdf/10.1007/s00439-009-0706-x.pdf
http://link.springer.com/article/10.1007/s00439-009-0706-x/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00439-009-0706-x

المؤلفون: Bunnell, Ann, Principe, Kate, Patel, Gayle, Nichols, Trisha, Mokhtary, Sara, Sandbach, John F., Torres, Vanessa

المصدر: Journal of Clinical Oncology; 2023 Supplement 16, Vol. 41, pe22533-e22533, 1p

المؤلفون: El-Hattab, Ayman W., Ping Fang, Weihong Jin, Hughes, Jeffrey R., Gibson, James B., Patel, Gayle S., Grange, Dorothy K., Manwaring, Linda P., Patel, Ankita, Stankiewicz, Pawel, Sau Wai Cheung

المصدر: Journal of Medical Genetics; Dec2011, Vol. 48 Issue 12, p840-850, 11p, 1 Color Photograph, 3 Diagrams, 1 Chart, 1 Graph

مصطلحات موضوعية: HUMAN chromosome abnormality diagnosis, GENETIC mutation, IN situ hybridization, DNA microarrays, POLYMERASE chain reaction

المؤلفون: Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., del Gaudio, Daniela, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine

المصدر: Human Mutation; Dec2010, Vol. 31 Issue 12, p1326-1342, 17p

المؤلفون: Qidwai, Kanwal, Pearson, David M., Patel, Gayle Simpson, Pober, Barbara R., Immken, LaDonna L., Cheung, Sau Wai, Scott, Daryl A.

المصدر: American Journal of Medical Genetics. Part A; June 2010, Vol. 152 Issue: 6 p1588-1590, 3p