المؤلفون: Ansari, Morad, Faour, Kamli N W, Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M, Denhoff, Erica R, Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M, Firth, Helen, Breman, Amy M, Bijlsma, Emilia K, Iwata-Otsubo, Aiko, de Ravel, Thomy J L, Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G, Haack, Tobias B, Korenke, G Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M, Low, Karen J, Place, Emily, Humberson, Jennifer, Napier, Melanie P, Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A, Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald, O'Donnell-Luria, Anne, Talkowski, Michael E, FitzPatrick, David R, Boone, Philip M

المصدر: Ansari , M , Faour , K N W , Shimamura , A , Grimes , G , Kao , E M , Denhoff , E R , Blatnik , A , Ben-Isvy , D , Wang , L , Helm , B M , Firth , H , Breman , A M , Bijlsma , E K , Iwata-Otsubo , A , de Ravel , T J L , Fusaro , V , Fryer , A , Nykamp , K , Stühn , L G , Haack , T B , Korenke , G C , Constantinou , ....

مصطلحات موضوعية: CdLS3, Cornelia de Lange syndrome, LoF, SMC3, cohesin, loss-of-function

Relation: https://research.manchester.ac.uk/en/publications/15887bad-c921-4439-8afb-db4a9d6b7c42

الاتاحة: https://research.manchester.ac.uk/en/publications/15887bad-c921-4439-8afb-db4a9d6b7c42
https://doi.org/10.1016/j.xhgg.2024.100273
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001190890300001&DestLinkType=FullRecord&DestApp=WOS_CPL
http://www.scopus.com/inward/record.url?scp=85185152165&partnerID=8YFLogxK
https://www.mendeley.com/catalogue/68a5ecd4-5962-3ff0-8b39-add1a7cecc56/

المؤلفون: Ballal, Sonia A., Greenwell, Saige, Liu, Enju, Buie, Timothy, Silvester, Jocelyn, Leier, McKenzie, Filippelli, Maura, Bousvaros, Athos, Hron, Bridget

المساهمون: National Institutes of Health, North American Society for Pediatric Gastroenterology Hepatology and Nutrition

المصدر: The Journal of Pediatrics ; volume 264, page 113737 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2023.113737
https://api.elsevier.com/content/article/PII:S0022347623006005?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347623006005?httpAccept=text/plain

المؤلفون: Frazier, Zoë J, Kilic, Seyda, Osika, Hailey, Mo, Alisa, Quinn, Meg, Ballal, Sonia, Katz, Tamar, Shearer, A Eliot, Horlbeck, Max A, Pais, Lynn S, Dies, Kira A, O'Donnell-Luria, Anne, Kossowsky, Joe, Lipton, Jonathan O, Kleefstra, Tjitske, Srivastava, Siddharth

المصدر: Clin Genet ; ISSN:1399-0004

مصطلحات موضوعية: 9q34.3 deletion, EHMT1, Kleefstra syndrome, genotype–phenotype correlation, neurodevelopment

Relation: https://doi.org/10.1111/cge.14697; https://pubmed.ncbi.nlm.nih.gov/39746677

الاتاحة: https://doi.org/10.1111/cge.14697
https://pubmed.ncbi.nlm.nih.gov/39746677

المؤلفون: Ansari, Morad, Faour, Kamli N. W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J. L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, O'Donnell-Luria, Anne, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Cornelia de Lange syndrome (CdLS), Cohesin, Loss-of-function

وصف الملف: application/pdf

Relation: Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. Preprint. medRxiv. 2023;2023.09.27.23294269. Published 2023 Sep 28. doi:10.1101/2023.09.27.23294269; https://hdl.handle.net/1805/39578

الاتاحة: https://hdl.handle.net/1805/39578

المؤلفون: Wibowo, Marsha C, Yang, Zhen, Borry, Maxime, Hübner, Alexander, Huang, Kun D, Tierney, Braden T, Zimmerman, Samuel, Barajas-Olmos, Francisco, Contreras-Cubas, Cecilia, García-Ortiz, Humberto, Martínez-Hernández, Angélica, Luber, Jacob M, Kirstahler, Philipp, Blohm, Tre, Smiley, Francis E, Arnold, Richard, Ballal, Sonia A, Pamp, Sünje Johanna, Russ, Julia, Maixner, Frank, Rota-Stabelli, Omar, Segata, Nicola, Reinhard, Karl, Orozco, Lorena, Warinner, Christina, Snow, Meradeth, LeBlanc, Steven, Kostic, Aleksandar D

المساهمون: Wibowo, M.C., Yang, Z., Borry, M., Hübner, A., Huang, K.D., Tierney, B.T., Zimmerman, S., Barajas-Olmos, F., Contreras-Cubas, C., García-Ortiz, H., Martínez-Hernández, A., Luber, J.M., Kirstahler, P., Blohm, T., Smiley, F.E., Arnold, R., Ballal, S.A., Pamp, S.J., Russ, J., Maixner, F., Rota-Stabelli, O., Segata, N., Reinhard, K., Orozco, L., Warinner, C., Snow, M., Leblanc, S., Kostic, A.D.

مصطلحات موضوعية: Settore BIO/18 - GENETICA

وصف الملف: Elettronico/Electronic

Relation: info:eu-repo/semantics/altIdentifier/pmid/33981035; info:eu-repo/semantics/altIdentifier/wos/WOS:000650200300003; volume:594; issue:7862; firstpage:234; lastpage:239; journal:NATURE; http://hdl.handle.net/10449/71889; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105780311

الاتاحة: http://hdl.handle.net/10449/71889
https://doi.org/10.1038/s41586-021-03532-0

المؤلفون: Ballal, Sonia A., Veiga, Patrick, Fenn, Kathrin, Michaud, Monia, Kim, Jason H., Gallini, Carey Ann, Glickman, Jonathan N., Quéré, Gaëlle, Garault, Peggy, Béal, Chloé, Derrien, Muriel, Courtin, Pascal, Kulakauskas, Saulius, Chapot-Chartier, Marie-Pierre, van Hylckama Vlieg, Johan, Garrett, Wendy S.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2015 Jun . 112(25), 7803-7808.

URL الوصول: https://www.jstor.org/stable/26463869

المؤلفون: Conover, Katie R., Absah, Imad, Ballal, Sonia, Brumbaugh, David, Cho, Stanley, Cardenas, Maria C., Knackstedt, Elizabeth Doby, Goyal, Alka, Jensen, M. Kyle, Kaplan, Jess L., Kellermayer, Richard, Kociolek, Larry K., Michail, Sonia, Oliva-Hemker, Maria, Reed, Anna W., Weatherly, Madison, Kahn, Stacy A., Nicholson, Maribeth R.

المصدر: Journal of Pediatric Gastroenterology & Nutrition ; volume 76, issue 4, page 440-446 ; ISSN 0277-2116

الاتاحة: http://dx.doi.org/10.1097/mpg.0000000000003714
https://journals.lww.com/10.1097/MPG.0000000000003714

المؤلفون: Rodig, Nancy M., Weatherly, Madison, Kaplan, Abby L., Ballal, Sonia Arora, Elisofon, Scott A., Daly, Kevin P., Kahn, Stacy A.

المصدر: Transplantation ; volume 107, issue 9, page 2073-2077 ; ISSN 0041-1337

الاتاحة: http://dx.doi.org/10.1097/tp.0000000000004656
https://journals.lww.com/10.1097/TP.0000000000004656

المؤلفون: Karim, Sabrina A., DeCelle, Melissa Getz, Hale, Amy E., Spencer, Dennis Justin, Zhang, Yanjia Jason, Hsu, Heather E., Ballal, Sonia A.

المصدر: Academic Pediatrics ; volume 23, issue 8, page 1520-1521 ; ISSN 1876-2859

الاتاحة: http://dx.doi.org/10.1016/j.acap.2023.06.002
https://api.elsevier.com/content/article/PII:S1876285923002115?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1876285923002115?httpAccept=text/plain

المؤلفون: Zhang, Chenhong, Derrien, Muriel, Levenez, Florence, Brazeilles, Rémi, Ballal, Sonia A., Kim, Jason, Degivry, Marie-Christine, Quéré, Gaëlle, Garault, Peggy, Vlieg, Johan E. T. van Hylckama, Garrett, Wendy S., Dore, Joël, Veiga, Patrick

المساهمون: MetaGenoPolis, Institut National de la Recherche Agronomique (INRA), Life Science, Danone Nutricia Research, Harvard T.H. Chan School of Public Health, ANR-11-DPBS-0001,MGP,MetaGenoPolis(2011)

المصدر: ISSN: 1751-7362.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/26953599; hal-01604968; https://hal.science/hal-01604968; https://hal.science/hal-01604968/document; https://hal.science/hal-01604968/file/2016_Zhang_ISME%20Journal_1; PRODINRA: 384185; PUBMED: 26953599; WOS: 000386664600014

الاتاحة: https://hal.science/hal-01604968
https://hal.science/hal-01604968/document
https://hal.science/hal-01604968/file/2016_Zhang_ISME%20Journal_1
https://doi.org/10.1038/ismej.2016.13

المؤلفون: Luff, Donna, Buscher, Sara W., Ward, Valerie L., Ballal, Sonia A., Holden, Paul, Pierre, Rachelle, Won, Paul, Eun Jin Yu, Toomey, Sara L.

المصدر: Pediatrics; Dec2022, Vol. 150 Issue 6, p1-12, 12p

المؤلفون: Nicholson, Maribeth R, Alexander, Erin, Ballal, Sonia, Davidovics, Zev, Docktor, Michael, Dole, Michael, Gisser, Jonathan M, Goyal, Alka, Hourigan, Suchitra K, Jensen, M Kyle, Kaplan, Jess L, Kellermayer, Richard, Kelsen, Judith R, Kennedy, Melissa A, Khanna, Sahil, Knackstedt, Elizabeth D, Lentine, Jennifer, Lewis, Jeffery D, Michail, Sonia, Mitchell, Paul D, Oliva-Hemker, Maria, Patton, Tiffany, Queliza, Karen, Sidhu, Sarah, Solomon, Aliza B, Suskind, David L, Weatherly, Madison, Werlin, Steven, de Zoeten, Edwin F, Kahn, Stacy A, Aktay, Nur, Asbah, Imad, Bartlett, Mark, Bassett, Mikelle, Brumbaugh, David, Caicedo, Luis, Chawla, Anu, Conrad, Maire, Dykes, Chelly Dana, Grzywacz, Kelly, Gulati, Ajay, Gurram, Bhaskar, Hellman, Jenny, Kastl, Art, Mallon, Danny, Pai, Nikhil, Pasternak, Brad, Patel, Ashish S, Prozialeck, Josh, Reilly, Norelle

المساهمون: National Institute of Allergy and Infectious Diseases, National Institute of Child Health and Human Development, National Institutes of Health, National Center for Advancing Translational Sciences

المصدر: Journal of Crohn's and Colitis ; volume 16, issue 5, page 768-777 ; ISSN 1873-9946 1876-4479

الاتاحة: http://dx.doi.org/10.1093/ecco-jcc/jjab202
https://academic.oup.com/ecco-jcc/advance-article-pdf/doi/10.1093/ecco-jcc/jjab202/41729114/jjab202.pdf
https://academic.oup.com/ecco-jcc/article-pdf/16/5/768/48496712/jjab202.pdf

المؤلفون: Rooks, Michelle G, Veiga, Patrick, Wardwell-Scott, Leslie H, Tickle, Timothy, Segata, Nicola, Michaud, Monia, Gallini, Carey Ann, Beal, Chloé, van Hylckama-Vlieg, Johan E T, Ballal, Sonia A, Morgan, Xochitl C, Glickman, Jonathan N, Gevers, Dirk, Huttenhower, Curtis, Garrett, Wendy S

المصدر: The ISME Journal ; volume 8, issue 7, page 1403-1417 ; ISSN 1751-7362 1751-7370

الاتاحة: https://doi.org/10.1038/ismej.2014.3
http://www.nature.com/articles/ismej20143.pdf
http://www.nature.com/articles/ismej20143
https://academic.oup.com/ismej/article-pdf/8/7/1403/56288211/41396_2014_article_bfismej20143.pdf

المؤلفون: Conover, Katie R., Absah, Imad, Ballal, Sonia, Brumbaugh, David, Cho, Stanley, Cardenas, Maria C., Knackstedt, Elizabeth Doby, Goyal, Alka, Jensen, M. Kyle, Kaplan, Jess L., Kellermayer, Richard, Kociolek, Larry K., Michail, Sonia, Oliva-Hemker, Maria, Reed, Anna W., Weatherly, Madison, Kahn, Stacy A., Nicholson, Maribeth R.

المصدر: Journal of Pediatric Gastroenterology & Nutrition; April 2023, Vol. 76 Issue: 4 p440-446, 7p

المؤلفون: Nicholson, Maribeth R., Mitchell, Paul D., Alexander, Erin, Ballal, Sonia, Bartlett, Mark, Becker, Penny, Davidovics, Zev, Docktor, Michael, Dole, Michael, Felix, Grace, Gisser, Jonathan, Hourigan, Suchitra K., Jensen, M. Kyle, Kaplan, Jess L., Kelsen, Judith, Kennedy, Melissa, Khanna, Sahil, Knackstedt, Elizabeth, Leier, McKenzie, Lewis, Jeffery, Lodarek, Ashley, Michail, Sonia, Oliva-Hemker, Maria, Patton, Tiffany, Queliza, Karen, Russell, George H., Singh, Namita, Solomon, Aliza, Suskind, David L., Werlin, Steven, Kellermayer, Richard, Kahn, Stacy A.

المساهمون: National Institutes of Health

المصدر: Clinical Gastroenterology and Hepatology ; volume 18, issue 3, page 612-619.e1 ; ISSN 1542-3565

الاتاحة: http://dx.doi.org/10.1016/j.cgh.2019.04.037
https://api.elsevier.com/content/article/PII:S1542356519304276?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1542356519304276?httpAccept=text/plain

المؤلفون: Mitsialis, Vanessa, Wall, Sarah, Liu, Peng, Ordovas-Montanes, Jose, Parmet, Tamar, Vukovic, Marko, Spencer, Dennis, Field, Michael, McCourt, Collin, Toothaker, Jessica, Bousvaros, Athos, Shalek, Alex K., Kean, Leslie, Horwitz, Bruce, Goldsmith, Jeffrey, Tseng, George, Snapper, Scott B., Konnikova, Liza, Ballal, Sonia, Bonilla, Silvana, Fawaz, Rima, Fishman, Laurie N., Flores, Alejandro, Fox, Victor, Grover, Amit S., Higuchi, Leslie, Huh, Susanna, Kahn, Stacy, Lee, Christine, Mobassaleh, Munir, Ouahed, Jodie, Pleskow, Randi G., Regan, Brian, Rufo, Paul A., Sabharwal, Sabina, Silverstein, Jared, Verhave, Menno, Wolf, Anne, Zimmerman, Lori, Zitomersky, Naamah, Allegretti, Jessica R., De Silva, Punyanganie, Friedman, Sonia, Hamilton, Matthew, Korzenik, Joshua, Makrauer, Frederick, Norton, Beth-Ann, Winter, Rachel W.

المساهمون: Leona M. and Harry B. Helmsley Charitable Trust, National Institutes of Health, Crohn's and Colitis Foundation of America

المصدر: Gastroenterology ; volume 159, issue 2, page 591-608.e10 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1053/j.gastro.2020.04.074
https://api.elsevier.com/content/article/PII:S0016508520306582?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508520306582?httpAccept=text/plain

المؤلفون: Nicholson, Maribeth R, Alexander, Erin, Ballal, Sonia, Davidovics, Zev, Docktor, Michael, Dole, Michael, Gisser, Jonathan M, Goyal, Alka, Hourigan, Suchitra K, Jensen, M Kyle, Kaplan, Jess L, Kellermayer, Richard, Kelsen, Judith R, Kennedy, Melissa A, Khanna, Sahil, Knackstedt, Elizabeth D, Lentine, Jennifer, Lewis, Jeffery D, Michail, Sonia, Mitchell, Paul D

المصدر: Journal of Crohn's & Colitis; May2022, Vol. 16 Issue 5, p768-777, 10p

المؤلفون: Wibowo, Marsha C., Yang, Zhen, Borry, Maxime, Hübner, Alexander, Huang, Kun D., Tierney, Braden T., Zimmerman, Samuel, Barajas-Olmos, Francisco, Contreras-Cubas, Cecilia, García-Ortiz, Humberto, Martínez-Hernández, Angélica, Luber, Jacob M., Kirstahler, Philipp, Blohm, Tre, Smiley, Francis E., Arnold, Richard, Ballal, Sonia A., Pamp, Sünje Johanna, Russ, Julia, Maixner, Frank

المصدر: Nature; 6/4/2021, Vol. 594 Issue 7862, p234-239, 6p

المؤلفون: Nicholson, Maribeth R., Alexander, Erin, Ballal, Sonia, Bartlett, Mark, Becker, Penny, Davidovics, Zev, Doby, Elizabeth, Docktor, Michael, Dole, Michael, Felix, Grace, Gisser, Jonathan, Hourigan, Suchitra K., Jensen, M.K., Kaplan, Jess, Kelsen, Judith R., Kennedy, Melissa, Khanna, Sahil, Leier, McKenzie, Lewis, Jeffery D., Lodarek, Ashley, Michail, Sonia, Mitchell, Paul, Oliva-Hemker, Maria, Patton, Tiffany, Queliza, Karen, Singh, Namita, Suskind, David, Solomon, Aliza, Werlin, Steven, Kellermayer, Richard, Kahn, Stacy A.

المصدر: Gastroenterology ; volume 154, issue 6, page S-448 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(18)31752-9
https://api.elsevier.com/content/article/PII:S0016508518317529?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508518317529?httpAccept=text/plain

المؤلفون: Pai, Anita Kochikar, Ballal, Sonia Arora

المصدر: Current Opinion in Pediatrics ; volume 29, issue 4, page 420-425 ; ISSN 1040-8703 1531-698X

الاتاحة: http://dx.doi.org/10.1097/mop.0000000000000511
https://journals.lww.com/00008480-201708000-00007