المؤلفون: Lowther, Chelsea, Valkanas, Elise, Giordano, Jessica, Wang, Harold, Currall, Benjamin, OKeefe, Kathryn, Pierce-Hoffman, Emma, Kurtas, Nehir, Whelan, Christopher, Hao, Stephanie, Weisburd, Ben, Jalili, Vahid, Fu, Jack, Wong, Isaac, Collins, Ryan, Zhao, Xuefang, Austin-Tse, Christina, Evangelista, Emily, Lemire, Gabrielle, Aggarwal, Vimla, Lucente, Diane, Gauthier, Laura, Tolonen, Charlotte, Sahakian, Nareh, Stevens, Christine, An, Joon-Yong, Dong, Shan, MacKenzie, Tippi, Devlin, Bernie, Gilmore, Kelly, Powell, Bradford, Brandt, Alicia, Vetrini, Francesco, DiVito, Michelle, MacArthur, Daniel, Hodge, Jennelle, ODonnell-Luria, Anne, Rehm, Heidi, Vora, Neeta, Levy, Brynn, Brand, Harrison, Wapner, Ronald, Talkowski, Michael, Norton, Mary, Sanders, Stephan

المصدر: American Journal of Human Genetics. 110(9)

مصطلحات موضوعية: genome sequencing, karyotype, microarray, exome sequencing, structural variant, autism spectrum disorder, structural anomaly, prenatal, first-tier, diagnostic, Female, Pregnancy, Humans, Autism Spectrum Disorder, Pregnancy Trimester, First, Ultrasonography, Prenatal, Chromosome Mapping, Exome

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2m24g89pTest

المؤلفون: Brand, Harrison, Zhao, Xuefang, Fu, Jack, Collins, Ryan, Wong, Isaac, Liao, Cal, Wang, Lily, Baxter, Samantha, Solomonson, Matthew, Darnowsky, Philip, Chapman, Sinéad, Stevens, Christine, Cusick, Caroline, Sanchis-Juan, Alba, Walker, Mark, Kurtas, Nehir, Chao, Katherine, Gabriel, Stacey, Banks, Eric, O’Donnell-Luria, Anne, MacArthur, Daniel, Rehm, Heidi, Neale, Benjamin, Daly, Mark, Samocha, Kaitlin, Karczewski, Konrad, Talkowski, Michael

المصدر: Genetics in Medicine Open ; volume 2, page 101015 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101015Test
https://api.elsevier.com/content/article/PII:S2949774424001614?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424001614?httpAccept=text/plainTest

المؤلفون: Schöpflin, Robert, Melo, Uirá Souto, Moeinzadeh, Hossein, Heller, David, Laupert, Verena, Hertzberg, Jakob, Holtgrewe, Manuel, Alavi, Nico, Klever, Marius Konstantin, Jungnitsch, Julius, Comak, Emel, Türkmen, Seval, Horn, Denise, Duffourd, Yannis, Faivre, Laurence, Callier, Patrick, Sanlaville, Damien, Zuffardi, Orsetta, Tenconi, Romano, Kurtas, Nehir Edibe, Giglio, Sabrina, Prager, Bettina, Latos-Bielenska, Anna, Vogel, Ida, Bugge, Merete, Tommerup, Niels, Spielmann, Malte, Vitobello, Antonio, Kalscheuer, Vera M., Vingron, Martin, Mundlos, Stefan

المصدر: Schöpflin , R , Melo , U S , Moeinzadeh , H , Heller , D , Laupert , V , Hertzberg , J , Holtgrewe , M , Alavi , N , Klever , M K , Jungnitsch , J , Comak , E , Türkmen , S , Horn , D , Duffourd , Y , Faivre , L , Callier , P , Sanlaville , D , Zuffardi , O , Tenconi , R , Kurtas , N E , Giglio , S , Prager , B , Latos-Bielenska , A , Vogel , I , ....

العلاقة: https://pure.au.dk/portal/en/publications/2bf0568a-6234-433b-a725-b64e0a62318eTest

الإتاحة: https://doi.org/10.1038/s41467-022-34053-7Test
https://pure.au.dk/portal/en/publications/2bf0568a-6234-433b-a725-b64e0a62318eTest
http://www.scopus.com/inward/record.url?scp=85140915097&partnerID=8YFLogxKTest

المؤلفون: Kurtas, Nehir Edibe, Xumerle, Luciano, Leonardelli, Lorena, Delledonne, Massimo, Brusco, Alfredo, Chrzanowska, Krystyna, Schinzel, Albert, Larizza, Daniela, Guerneri, Silvana, Natacci, Federica, Bonaglia, Maria Clara, Reho, Paolo, Manolakos, Emmanouil, Mattina, Teresa, Soli, Fiorenza, Provenzano, Aldesia, Al-Rikabi, Ahmed H, Errichiello, Edoardo, Nazaryan-Petersen, Lusine, Giglio, Sabrina, Tommerup, Niels, Liehr, Thomas, Zuffardi, Orsetta

المساهمون: Kurtas, Nehir Edibe, Xumerle, Luciano, Leonardelli, Lorena, Delledonne, Massimo, Brusco, Alfredo, Chrzanowska, Krystyna, Schinzel, Albert, Larizza, Daniela, Guerneri, Silvana, Natacci, Federica, Bonaglia, Maria Clara, Reho, Paolo, Manolakos, Emmanouil, Mattina, Teresa, Soli, Fiorenza, Provenzano, Aldesia, Al-Rikabi, Ahmed H, Errichiello, Edoardo, Nazaryan-Petersen, Lusine, Giglio, Sabrina, Tommerup, Niel, Liehr, Thoma, Zuffardi, Orsetta

مصطلحات موضوعية: chromothripsi, evolutionary trade-off, maternal meiotic nondisjunction, small supernumerary marker chromosome (sSMC), whole genome paired-end sequencing (WGS)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30412329; info:eu-repo/semantics/altIdentifier/wos/WOS:000455769100006; volume:40; issue:2; firstpage:193; lastpage:200; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/2318/1686686Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056877249

الإتاحة: https://doi.org/10.1002/humu.23683Test
http://hdl.handle.net/2318/1686686Test

المؤلفون: van de Putte, Romy, Dworschak, Gabriel C., Brosens, Erwin, Reutter, Heiko M., Marcelis, Carlo L. M., Acuna-Hidalgo, Rocio, Kurtas, Nehir E., Steehouwer, Marloes, Dunwoodie, Sally L., Schmiedeke, Eberhard, Maerzheuser, Stefanie, Schwarzer, Nicole, Brooks, Alice S., de Klein, Annelies, Sloots, Cornelius E. J., Tibboel, Dick, Brisighelli, Giulia, Morandi, Anna, Bedeschi, Maria F., Bates, Michael D., Levitt, Marc A., Pena, Alberto, de Blaauw, Ivo, Roeleveld, Nel, Brunner, Han G., van Rooij, Iris A. L. M., Hoischen, Alexander

المصدر: van de Putte , R , Dworschak , G C , Brosens , E , Reutter , H M , Marcelis , C L M , Acuna-Hidalgo , R , Kurtas , N E , Steehouwer , M , Dunwoodie , S L , Schmiedeke , E , Maerzheuser , S , Schwarzer , N , Brooks , A S , de Klein , A , Sloots , C E J , Tibboel , D , Brisighelli , G , Morandi , A , Bedeschi , M F , Bates , M D , Levitt , M A , ....

مصطلحات موضوعية: anorectal malformations, duane-radial ray syndrome, esophageal atresia, genetics-first, molecular inversion probe, Opitz-G, BBB syndrome, townes-brocks syndrome, VATER/VACTERL ASSOCIATION, MOLECULAR-BASIS, COPY NUMBER, MALFORMATIONS, MUTATION, FGF8, EXPRESSION, NOTOCHORD, SPECTRUM, DEFECTS

الإتاحة: https://doi.org/10.3389/fped.2020.00310Test
https://cris.maastrichtuniversity.nl/en/publications/4c883f98-8e90-457f-97ee-ea0a82095430Test

المؤلفون: Provenzano, Aldesia, La Barbera, Andrea, Scagnet, Mirko, Pagliazzi, Angelica, Traficante, Giovanna, Pantaleo, Marilena, Tiberi, Lucia, Vergani, Debora, Kurtas, Nehir Edibe, Guarducci, Silvia, Bargiacchi, Sara, Forzano, Giulia, Artuso, Rosangela, Palazzo, Viviana, Kura, Ada, Giordano, Flavio, di Feo, Daniele, Mortilla, Marzia, De Filippi, Claudio, Mattei, Gianluca, Garavelli, Livia, Giusti, Betti, Genitori, Lorenzo, Zuffardi, Orsetta, Giglio, Sabrina

المساهمون: Università degli Studi di Firenze

المصدر: Human Genetics ; volume 140, issue 4, page 625-647 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-020-02231-6Test

المؤلفون: Kurtas, Nehir, Arrigoni, Filippo, Errichiello, Edoardo, Zucca, Claudio, Maghini, Cristina, D'Angelo, Maria Grazia, Beri, Silvana, Giorda, Roberto, Bertuzzo, Sara, Delledonne, Massimo, Xumerle, Luciano, Rossato, Marzia, Zuffardi, Orsetta, Bonaglia, Maria Clara

المساهمون: Kurtas, Nehir, Arrigoni, Filippo, Errichiello, Edoardo, Zucca, Claudio, Maghini, Cristina, D'Angelo, Maria Grazia, Beri, Silvana, Giorda, Roberto, Bertuzzo, Sara, Delledonne, Massimo, Xumerle, Luciano, Rossato, Marzia, Zuffardi, Orsetta, Bonaglia, Maria Clara

مصطلحات موضوعية: SHANK3, NFAM1, TCF20, polymicrogyria, topologically associating domains

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29378768; info:eu-repo/semantics/altIdentifier/wos/WOS:000428919900008; volume:55; issue:4; firstpage:269; lastpage:277; numberofpages:9; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11562/977816Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044829448; http://jmg.bmj.com/content/55/4/269.longTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-105125Test
http://hdl.handle.net/11562/977816Test
http://jmg.bmj.com/content/55/4/269.longTest

المؤلفون: Errichiello, Edoardo, Gorgone, Cristina, Giuliano, Loretta, IADAROLA, BARBARA, Cosentino, Emanuela, Rossato, Marzia, Kurtas, Nehir Edibe, Delledonne, Massimo, Mattina, Teresa, Zuffardi, Orsetta

المساهمون: Errichiello, Edoardo, Gorgone, Cristina, Giuliano, Loretta, Iadarola, Barbara, Cosentino, Emanuela, Rossato, Marzia, Kurtas, Nehir Edibe, Delledonne, Massimo, Mattina, Teresa, Zuffardi, Orsetta

مصطلحات موضوعية: Anophthalmia/microphthalmia, Hypogonadotropic hypogonadism, Hypoplastic uteru, SOX2, Undetectable ovarie, Vaginal agenesis

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29371155; info:eu-repo/semantics/altIdentifier/wos/WOS:000432895400007; firstpage:1; lastpage:6; numberofpages:6; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11562/977824Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040921432; https://www.sciencedirect.com/science/article/pii/S1769721217306626?via%3DihubTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2018.01.011Test
http://hdl.handle.net/11562/977824Test
https://www.sciencedirect.com/science/article/pii/S1769721217306626?via%3DihubTest

المؤلفون: Bassett, Anne S., Van Batavia, Jason P., Boot, Erik, Calcagni, Giulio, Castelein, René M., Chadehumbe, Madeline, Corral, Maria, Digilio, Maria Cristina, Elden, Lisa M., Fiksinski, Ania, Forbes, Brian John, Gold, Jessica, Hoffman, Emily, Homans, Jelle F., Hooper, Stephen R., Hopkins, Sarah, Ivins, Sarah, Jackson, Oksana A., Kaye, Alison E., Kolon, Thomas F., Kotcher, Rebecca E., Kurtas, Nehir Edibe, Lairson, Lauren A., Lambert, Michele P., Levitt Katz, Lorraine E., Marino, Bruno, Mascarenhas, Maria R., McDonald-McGinn, Donna M., McGinn, Daniel E., Moldenhauer, Julie S., Morrow, Bernice E., Moss, Edward M., Óskarsdóttir, Sólveig, Putotto, Carolina, Rayannavar, Arpana, Scambler, Peter, Schindewolf, Erica M., Solot, Cynthia B., Sullivan, Kathleen E., Swillen, Ann, Unolt, Marta, Van, Lily, Vermeesch, Joris Robert, Versacci, Paolo, Vorstman, Jacob, Zackai, Elaine H.

المصدر: The Chromosome 22q11.2 Deletion Syndrome ; page xv-xvii ; ISBN 9780128160473

الإتاحة: https://doi.org/10.1016/b978-0-12-816047-3.09994-9Test
https://api.elsevier.com/content/article/PII:B9780128160473099949?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128160473099949?httpAccept=text/plainTest

المؤلفون: Vermeesch, Joris Robert, Kurtas, Nehir Edibe

المصدر: The Chromosome 22q11.2 Deletion Syndrome ; page 406-418 ; ISBN 9780128160473

الإتاحة: https://doi.org/10.1016/b978-0-12-816047-3.00005-8Test
https://api.elsevier.com/content/article/PII:B9780128160473000058?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128160473000058?httpAccept=text/plainTest