Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sonia, Ballal"'
Autor:
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Summary: Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spe
Externí odkaz:
https://doaj.org/article/be0b7360900245738bb5fa3eedf88913
Autor:
Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)
Externí odkaz:
https://doaj.org/article/63607ac1340c4282b5f0385f8b733957
Autor:
Katie R. Conover, Imad Absah, Sonia Ballal, David Brumbaugh, Stanley Cho, Maria C. Cardenas, Elizabeth Doby Knackstedt, Alka Goyal, M. Kyle Jensen, Jess L. Kaplan, Richard Kellermayer, Larry K. Kociolek, Sonia Michail, Maria Oliva-Hemker, Anna W. Reed, Madison Weatherly, Stacy A. Kahn, Maribeth R. Nicholson
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 76:440-446
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d22a9fb28b73376cf6f8e7cca56e759
https://doi.org/10.1097/mpg.0000000000003714
https://doi.org/10.1097/mpg.0000000000003714
Autor:
Maribeth R, Nicholson, Erin, Alexander, Sonia, Ballal, Zev, Davidovics, Michael, Docktor, Michael, Dole, Jonathan M, Gisser, Alka, Goyal, Suchitra K, Hourigan, M Kyle, Jensen, Jess L, Kaplan, Richard, Kellermayer, Judith R, Kelsen, Melissa A, Kennedy, Sahil, Khanna, Elizabeth D, Knackstedt, Jennifer, Lentine, Jeffery D, Lewis, Sonia, Michail, Paul D, Mitchell, Maria, Oliva-Hemker, Tiffany, Patton, Karen, Queliza, Sarah, Sidhu, Aliza B, Solomon, David L, Suskind, Madison, Weatherly, Steven, Werlin, Edwin F, de Zoeten, Stacy A, Kahn, Yuhua, Zheng
Publikováno v:
J Crohns Colitis
Background Children with inflammatory bowel disease [IBD] are disproportionally affected by recurrent Clostridioides difficile infection [rCDI]. Although faecal microbiota transplantation [FMT] has been used with good efficacy in adults with IBD, lit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f2b89cc7ec96a71a7e0532a4d643c34
https://doi.org/10.1093/ecco-jcc/jjab202
https://doi.org/10.1093/ecco-jcc/jjab202