المؤلفون: Galarreta, Carolina I, Hoyt, Erin, Forero, Laura, Curry, Cynthia J, Bird, Lynne M

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Clinical Research, Dental/Oral and Craniofacial Disease, Congenital Structural Anomalies, Pediatric, Diabetes, Reproductive health and childbirth, Congenital, VACTERL, craniofacial anomalies, ear anomalies, hearing loss, maternal diabetes, microtia, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9c90j3dw

المؤلفون: Li, Jingjing, Yang, Wei, Wang, Yuejun Jessie, Ma, Chen, Curry, Cynthia J, McGoldrick, Daniel, Nickerson, Deborah A, Chong, Jessica X, Blue, Elizabeth E, Mullikin, James C, Reefhuis, Jennita, Nembhard, Wendy N, Romitti, Paul A, Werler, Martha M, Browne, Marilyn L, Olshan, Andrew F, Finnell, Richard H, Feldkamp, Marcia L, Pangilinan, Faith, Almli, Lynn M, Bamshad, Mike J, Brody, Lawrence C, Jenkins, Mary M, Shaw, Gary M, Program, NISC Comparative Sequencing, Genomics, University of Washington Center for Mendelian, Study, Birth Defects Prevention

المصدر: American Journal of Medical Genetics Part A. 188(8)

مصطلحات موضوعية: Eye Disease and Disorders of Vision, Genetics, Prevention, Pediatric, Human Genome, Clinical Research, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Anophthalmos, Exome, Humans, Infant, Microphthalmos, Mutation, Missense, Exome Sequencing, congenital abnormalities, genetic epidemiology, newborn eye abnormalities, NISC Comparative Sequencing Program, University of Washington Center for Mendelian Genomics, National Birth Defects Prevention Study, Clinical Sciences

URL الوصول: https://escholarship.org/uc/item/2g1826fs

المؤلفون: Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa

المساهمون: National Heart Lung and Blood Institute, National Health and Medical Research Council, National Human Genome Research Institute, Chan Zuckerberg Initiative, National Institute of Dental and Craniofacial Research, Howard Hughes Medical Institute, National Eye Institute, National Institute of Mental Health, Boston Children's Hospital Manton Center for Orphan Disease Research, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, Harvard Medical School

المصدر: Genetics in Medicine ; page 101216 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2024.101216
https://api.elsevier.com/content/article/PII:S1098360024001503?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024001503?httpAccept=text/plain

المؤلفون: Watts, Laura M., Bertoli, Marta, Attie-Bitach, Tania, Roux, Natalie, Rausell, Antonio, Paschal, Cate R., Zambonin, Jessica L., Curry, Cynthia J., Martin, Blanche, Tooze, Rebecca S., Hawkes, Lara, Kini, Usha, Twigg, Stephen R. F., Wilkie, Andrew O. M.

المساهمون: DH | National Institute for Health Research, RCUK | Medical Research Council, Doctoral Training Programme studentship funded jointly by the Radcliffe Department of Medicine, Exeter College (Oxford) Usher Cunningham Scholarship and the MRC

المصدر: European Journal of Human Genetics ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-024-01624-9
https://www.nature.com/articles/s41431-024-01624-9.pdf
https://www.nature.com/articles/s41431-024-01624-9

المؤلفون: Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C. E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J. L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., Cooper, Gregory M.

المصدر: Hiatt , S M , Trajkova , S , Sebastiano , M R , Partridge , E C , Abidi , F E , Anderson , A , Ansar , M , Antonarakis , S E , Azadi , A , Bachmann-Gagescu , R , Bartuli , A , Benech , C , Berkowitz , J L , Betti , M J , Brusco , A , Cannon , A , Caron , G , Chen , Y , Cochran , M E , Coleman , T F , Crenshaw , M M , Cuisset , L , Curry ....

الاتاحة: https://research.vumc.nl/en/publications/485b39d6-98d0-45cd-9fc1-3a67cf49ad1e
https://doi.org/10.1016/j.ajhg.2022.12.007
http://www.scopus.com/inward/record.url?scp=85147457278&partnerID=8YFLogxK

المؤلفون: Wang, Jiyong, Foroutan, Aidin, Richardson, Ellen, Skinner, Steven A., Reilly, Jack, Kerkhof, Jennifer, Curry, Cynthia J., Tarpey, Patrick S., Robertson, Stephen P., Maystadt, Isabelle, Keren, Boris, Dixon, Joanne W., Skinner, Cindy, Stapleton, Rachel, Ruaud, Lyse, Gumus, Evren, Lakeman, Phillis, Alders, Mariëlle, Tedder, Matthew L., Schwartz, Charles E., Friez, Michael J., Sadikovic, Bekim, Stevenson, Roger E.

المصدر: Wang , J , Foroutan , A , Richardson , E , Skinner , S A , Reilly , J , Kerkhof , J , Curry , C J , Tarpey , P S , Robertson , S P , Maystadt , I , Keren , B , Dixon , J W , Skinner , C , Stapleton , R , Ruaud , L , Gumus , E , Lakeman , P , Alders , M , Tedder , M L , Schwartz , C E , Friez , M J , Sadikovic , B & Stevenson , R ....

الاتاحة: https://research.vumc.nl/en/publications/997b99b3-f07d-4718-b2bd-8befa9f38299
https://doi.org/10.1038/s41431-023-01499-2
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85178482395&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/38040915

المؤلفون: Twigg, Stephen RF, Hufnagel, Robert B, Miller, Kerry A, Zhou, Yan, McGowan, Simon J, Taylor, John, Craft, Jude, Taylor, Jenny C, Santoro, Stephanie L, Huang, Taosheng, Hopkin, Robert J, Brady, Angela F, Clayton-Smith, Jill, Clericuzio, Carol L, Grange, Dorothy K, Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I Karen, Dobyns, William B, Curry, Cynthia J, Jones, Marilyn C, Wilkie, Andrew OM

المصدر: American Journal of Human Genetics. 98(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Brain Cancer, Clinical Research, Neurosciences, Cancer, Pediatric, Genetics, Child, Preschool, Craniofacial Abnormalities, Female, Humans, Infant, Infant, Newborn, Intestines, Male, Mutation, Signal Transduction, Skin Abnormalities, Smoothened Receptor, Syndactyly, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7gk499wk
https://escholarship.org/content/qt7gk499wk/qt7gk499wk.pdf

المؤلفون: Fasano, Giulia, Muto, Valentina, Radio, Francesca Clementina, Venditti, Martina, Mosaddeghzadeh, Niloufar, Coppola, Simona, Paradisi, Graziamaria, Zara, Erika, Bazgir, Farhad, Ziegler, Alban, Chillemi, Giovanni, Bertuccini, Lucia, Tinari, Antonella, Vetro, Annalisa, Pantaleoni, Francesca, Pizzi, Simone, Conti, Libenzio Adrian, Petrini, Stefania, Bruselles, Alessandro, Prandi, Ingrid Guarnetti, Mancini, Cecilia, Chandramouli, Balasubramanian, Barth, Magalie, Bris, Céline, Milani, Donatella, Selicorni, Angelo, Macchiaiolo, Marina, Gonfiantini, Michaela V., Bartuli, Andrea, Mariani, Riccardo, Curry, Cynthia J., Guerrini, Renzo, Slavotinek, Anne, Iascone, Maria, Dallapiccola, Bruno, Ahmadian, Mohammad Reza, Lauri, Antonella, Tartaglia, Marco

المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-022-34354-x
https://www.nature.com/articles/s41467-022-34354-x.pdf
https://www.nature.com/articles/s41467-022-34354-x

المؤلفون: Vetro, Annalisa, Nielsen, Hang N, Holm, Rikke, Hevner, Robert F, Parrini, Elena, Powis, Zoe, Møller, Rikke S, Bellan, Cristina, Simonati, Alessandro, Lesca, Gaétan, Helbig, Katherine L, Palmer, Elizabeth E, Mei, Davide, Ballardini, Elisa, Haeringen, Arie Van, Syrbe, Steffen, Leuzzi, Vincenzo, Cioni, Giovanni, Curry, Cynthia J, Costain, Gregory, Santucci, Margherita, Chong, Karen, Mancini, Grazia M S, Clayton-Smith, Jill, A-Collaborators, Atp A/, Bigoni, Stefania, Scheffer, Ingrid E, Dobyns, William B, Vilsen, Bente, Guerrini, Renzo

المساهمون: Vetro, Annalisa, Nielsen, Hang N, Holm, Rikke, Hevner, Robert F, Parrini, Elena, Powis, Zoe, Møller, Rikke S, Bellan, Cristina, Simonati, Alessandro, Lesca, Gaétan, Helbig, Katherine L, Palmer, Elizabeth E, Mei, Davide, Ballardini, Elisa, Haeringen, Arie Van, Syrbe, Steffen, Leuzzi, Vincenzo, Cioni, Giovanni, Curry, Cynthia J, Costain, Gregory, Santucci, Margherita, Chong, Karen, Mancini, Grazia M S, Clayton-Smith, Jill, A-Collaborators, Atp A/, Bigoni, Stefania, Scheffer, Ingrid E, Dobyns, William B, Vilsen, Bente, Guerrini, Renzo

مصطلحات موضوعية: ATP1A2, ATP1A3, developmental and epileptic encephalopathy, polymicrogyria, Na + /K + -ATPase pump

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33880529; info:eu-repo/semantics/altIdentifier/wos/WOS:000710927500030; volume:144; issue:5; firstpage:1435; lastpage:1450; numberofpages:16; journal:BRAIN; info:eu-repo/grantAgreement/EC/FP7/602531; http://hdl.handle.net/11392/2455686; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108991567

الاتاحة: http://hdl.handle.net/11392/2455686
https://doi.org/10.1093/brain/awab052
https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awab052/6242725?searchresult=1

المؤلفون: McMillin, Margaret J, Beck, Anita E, Chong, Jessica X, Shively, Kathryn M, Buckingham, Kati J, Gildersleeve, Heidi IS, Aracena, Mariana I, Aylsworth, Arthur S, Bitoun, Pierre, Carey, John C, Clericuzio, Carol L, Crow, Yanick J, Curry, Cynthia J, Devriendt, Koenraad, Everman, David B, Fryer, Alan, Gibson, Kate, Uzielli, Maria Luisa Giovannucci, Graham, John M, Hall, Judith G, Hecht, Jacqueline T, Heidenreich, Randall A, Hurst, Jane A, Irani, Sarosh, Krapels, Ingrid PC, Leroy, Jules G, Mowat, David, Plant, Gordon T, Robertson, Stephen P, Schorry, Elizabeth K, Scott, Richard H, Seaver, Laurie H, Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G, Weaver, David D, Whiteford, Margo, Williams, Marc S, Tabor, Holly K, Smith, Joshua D, Shendure, Jay, Nickerson, Deborah A, Genomics, University of Washington Center for Mendelian, Bamshad, Michael J

المصدر: American Journal of Human Genetics. 94(5)

مصطلحات موضوعية: Rare Diseases, Human Genome, Genetics, Congenital Structural Anomalies, Pediatric, Dental/Oral and Craniofacial Disease, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Arachnodactyly, Arthrogryposis, Blepharophimosis, Child, Child, Preschool, Cleft Palate, Clubfoot, Connective Tissue Diseases, Contracture, Exome, Female, Hand Deformities, Congenital, Humans, Ion Channels, Male, Mutation, Ophthalmoplegia, Pedigree, Retinal Diseases, University of Washington Center for Mendelian Genomics, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2mm0j4f2

المؤلفون: Schwartz, Charles E., Aylsworth, Arthur S., Allanson, Judith, Battaglia, Agatino, Carey, John C., Curry, Cynthia J., Davies, Kay E., Eichler, Evan E., Graham, John M., Hall, Bryan, Hall, Judith G., Holmes, Lewis B., Hoyme, H. Eugene, Hunter, Alasdair, Innis, Jeffrey, Johnson, John, Keppler‐Noreuil, Kim M., Leroy, Jules G., Moore, Cynthia, Nelson, David L.

المصدر: American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-80, 80p

المؤلفون: Lemire, Gabrielle, Ito, Yoko A., Marshall, Aren E., Chrestian, Nicolas, Stanley, Valentina, Brady, Lauren, Tarnopolsky, Mark, Curry, Cynthia J., Hartley, Taila, Mears, Wendy, Derksen, Alexa, Rioux, Nadie, Laflamme, Nataly, Hutchison, Harrol T., Pais, Lynn S., Zaki, Maha S., Sultan, Tipu, Dane, Adrie D., Gleeson, Joseph G., Vaz, Frédéric M., Kernohan, Kristin D., Bernard, Geneviève, Boycott, Kym M.

المصدر: The American Journal of Human Genetics ; volume 108, issue 10, page 2017-2023 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2021.09.005
https://api.elsevier.com/content/article/PII:S0002929721003414?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721003414?httpAccept=text/plain

المؤلفون: Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun‐Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, Biesecker, Leslie G

المصدر: Human Mutation. 31(10)

مصطلحات موضوعية: Genetics, Dental/Oral and Craniofacial Disease, Pediatric, Clinical Research, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Craniofacial Abnormalities, Genotype, Humans, Kruppel-Like Transcription Factors, Mouth Abnormalities, Mutation, Nerve Tissue Proteins, Pallister-Hall Syndrome, Phenotype, Polydactyly, Syndactyly, Zinc Finger Protein Gli3, GLI3, Greig syndrome, Pallister-Hall syndrome, oral-facial-digital syndrome, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6z17j09n

المؤلفون: Carmichael, Suzan L., Shaw, Gary M., Nelson, Verne, Selvin, Steve, Torfs, Claudine P., Curry, Cynthia J.

المصدر: Epidemiology, 2003 Nov 01. 14(6), 701-706.

URL الوصول: https://www.jstor.org/stable/3703430

المؤلفون: Tartaglia, Marco, Pennacchio, Len A., Zhao, Chen, Yadav, Kamlesh K., Fodale, Valentina, Sarkozy, Anna, Pandit, Bhaswati, Oishi, Kimihiko, Martinelli, Simone, Schackwitz, Wendy, Ustaszewska, Anna, Martin, Joes, Bristow, James, Carta, Claudio, Lepri, Francesca, Neri, Cinzia, Vasta, Isabella, Gibson, Kate, Curry, Cynthia J., Lopez Siguero, Juan Pedro, Digilio, Maria Cristina, Zampino, Giuseppe, Dallapiccola, Bruno, Bar-Sagi, Dafna, Gelb, Brude D.

مصطلحات موضوعية: Applied life sciences, Noonan syndrome developmental disorder

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1dc93220

المؤلفون: Wojcik, Monica H, Srivastava, Siddharth, Agrawal, Pankaj B, Balci, Tugce B, Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra-Clarke, Marina, Edwards, Matthew, Genetti, Casie A, Grange, Dorothy K, Hickey, Scott E, Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M, Lavillaureix, Alinoe, Lyons, Michael J, Marcelis, Carlo, Marco, Elysa J, Martinez-Agosto, Julian A, Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J, Riberi, Evelise, Rush, Eric T, Russell, Bianca E, Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A, Wilson, Kate, Jansen, Sandra, de Vries, Bert B A, Curry, Cynthia J

المساهمون: Wojcik, Monica H, Srivastava, Siddharth, Agrawal, Pankaj B, Balci, Tugce B, Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra-Clarke, Marina, Edwards, Matthew, Genetti, Casie A, Grange, Dorothy K, Hickey, Scott E, Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M, Lavillaureix, Alinoe, Lyons, Michael J, Marcelis, Carlo, Marco, Elysa J, Martinez-Agosto, Julian A, Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J, Riberi, Evelise, Rush, Eric T, Russell, Bianca E, Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A, Wilson, Kate, Jansen, Sandra, de Vries, Bert B A, Curry, Cynthia J

مصطلحات موضوعية: Jansen-de Vries syndrome, PPM1D, cyclic vomiting, developmental delay, hypersocial personality

Relation: info:eu-repo/semantics/altIdentifier/pmid/37183572; info:eu-repo/semantics/altIdentifier/wos/WOS:000993565900001; volume:191; issue:7; firstpage:1900; lastpage:1910; numberofpages:11; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/2318/1921197; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159181090

الاتاحة: https://hdl.handle.net/2318/1921197
https://doi.org/10.1002/ajmg.a.63226

المؤلفون: Kumar, Raman, Gardner, Alison E, Carroll, Renee, Banka, Siddharth, Abdelhadi, Ola, Donnai, Dian, Elgersma, Ype, Curry, Cynthia J, Gardham, Alice, Suri, Mohnish, Malla, Rishikesh, Brady, Lauren Ilana, Tarnopolsky, Mark, Azmanov, Dimitar N, Atkinson, Vanessa, Baynam, Gareth, Dreyer, Lauren, Hayeems, Robin Z, Marshall, Christian R, Costain, Gregory, Wessels, Marja W, Baptista, Julia, Drummond, James, Leffler, Melanie, Gecz, Jozef

المصدر: Kumar , R , Gardner , A E , Carroll , R , Banka , S , Abdelhadi , O , Donnai , D , Elgersma , Y , Curry , C J , Gardham , A , Suri , M , Malla , R , Brady , L I , Tarnopolsky , M , Azmanov , D N , Atkinson , V , Baynam , G , Dreyer , L , Hayeems , R Z , Marshall , C R , Costain , G , Wessels , M W , Baptista , J , Drummond , J , ....

الاتاحة: https://research.manchester.ac.uk/en/publications/d21f83d2-d786-4da5-9b22-5c217f24b852
https://doi.org/10.3389/fnmol.2020.00012

المؤلفون: Bashford, Michael T., Hickey, Scott E., Curry, Cynthia J., Toriello, Helga V.

المصدر: Genetics in Medicine ; volume 22, issue 9, page 1568 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1038/s41436-020-0891-5
http://www.nature.com/articles/s41436-020-0891-5.pdf
http://www.nature.com/articles/s41436-020-0891-5
https://api.elsevier.com/content/article/PII:S1098360021007309?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007309?httpAccept=text/plain

المؤلفون: Bashford, Michael T., Hickey, Scott E., Curry, Cynthia J., Toriello, Helga V.

المصدر: Genetics in Medicine ; volume 22, issue 12, page 2125 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1038/s41436-020-0843-0
http://www.nature.com/articles/s41436-020-0843-0.pdf
http://www.nature.com/articles/s41436-020-0843-0
https://api.elsevier.com/content/article/PII:S1098360021007991?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007991?httpAccept=text/plain

المؤلفون: Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.

المساهمون: Genetica, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health

مصطلحات موضوعية: brain, development, digit, eye, FBXW11, hedgehog, neurodevelopment, Noonan syndrome, WD40, Wnt, Genetics, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/439135

الاتاحة: https://dspace.library.uu.nl/handle/1874/439135