Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Roula Farah"'
Autor:
Roula Farah, MD, Oussama Abla, MD
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 5, Iss 4, Pp 137-139 (2020)
Externí odkaz:
https://doaj.org/article/ae559f4f9ef14819bbf218f85d10751b
Publikováno v:
Respiratory Medicine Case Reports, Vol 34, Iss , Pp 101543- (2021)
Background: COVID-19 disease has been associated with several cardiovascular complications that rarely occur in the acute phase of the disease. Case report: A 13-year-old pediatric patient with congenital sideroblastic anemia associated with YARS2 mu
Externí odkaz:
https://doaj.org/article/dce1ffac0eee412ab0decddbe01d0f60
Autor:
Paolo Ferraresi, Dario Balestra, Caroline Guittard, Delphine Buthiau, Brigitte Pan-Petesh, Iva Maestri, Roula Farah, Mirko Pinotti, Muriel Giansily-Blaizot
Publikováno v:
Haematologica, Vol 105, Iss 3 (2020)
Despite the exhaustive screening of F7 gene exons and exon-intron boundaries and promoter region, a significant proportion of mutated alleles remains unidentified in patients with coagulation factor VII deficiency. Here, we applied next-generation se
Externí odkaz:
https://doaj.org/article/d77b9e6fb1c64c25b5c76b4ca0cd42c1
Autor:
Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming
Publikováno v:
Haematologica, Vol 103, Iss 12 (2018)
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRN
Externí odkaz:
https://doaj.org/article/70af1a9edca84727a4ddd156e06aba63
Autor:
Mahmoud M. Elzembely, Abdulhakim Al Rawas, Abdulqader Al-Hebshi, Abdulrahman Alhadi, Ahmed K. Ibrahim, Amal Ahmed Zein, Iman Ragab, Eman Taryam Alshamsi, Enas Dammag, Fatiha Gachi, Gamal Hussien Zain, Hadeel Saleh Mohammad, Hisham Haddad, Houda Boudiaf, Ibrahim Alharbi, Iyad Sultan, Khadra Hasan Salami, Mohamed S. Bayoumy, Naima Ali Al-Mulla, Nawal Al Mashaikhi, Rami Mohammed Almajali, Roula Farah, Saad A. Al Daama, Salah Ahmad, Seham M. Ragab, Shady H. Fadel, Soha Ahmed, Suleimman Al-Sweedan, Suzy Abdelmabood, Waleed Khaled Kaleem, Youssef Madney
Publikováno v:
Journal of Pediatric Hematology/Oncology. 45:e87-e91
During the COVID-19 pandemic, major challenges are facing pediatric cancer centers regarding access to cancer centers, continuity of the anti-cancer therapy, hospital admission, and infection protection precautions. Pediatric oncologists actively tre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e84c2456b564347429c9a5d48ce42651
https://doi.org/10.1097/mph.0000000000002564
https://doi.org/10.1097/mph.0000000000002564
Publikováno v:
International Journal of Clinical Research. 2:112-117
Background: Appendicitis is a common acute surgical condition in the pediatric population. With the rise of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), many efforts have been made to understand the association of this virus with oth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75486ac6fd647570ae172d0cc0f2eaf0
https://doi.org/10.38179/ijcr.v2i1.76
https://doi.org/10.38179/ijcr.v2i1.76
Autor:
Lee Yi Yen, Melyssa Aronson, Carol J. Swallow, Cynthia Hawkins, Lara Reichman, Rebecca C. Luiten, Sumita Roy, Michal Zapotocky, Patrick Tomboc, Christian Kratz, Michael Osborn, Junne Kamihara, Ayse Bahar Ercan, Jamie L. Maciaszek, Vanessa Bianchi, Benjamin Oshrine, Hagit N. Baris, Ossama M. Maher, Mohsin Rashid, Sara Rhode, Sharon Gardner, Annika Bronsema, David S. Ziegler, An Van Damme, Monica Newmark, Mithra Ghalibafian, Heather Hampel, Jordan R. Hansford, Vahid Fallah Azad, Michael P. Link, Simon C. Ling, Marc Remke, Shayna Zelcer, Deborah T. Blumenthal, Isabelle Scheers, Rebecca Loret De Mola, Syed Ahmer Hamid, Vanan MagimairajanIssai, Kim E. Nichols, Saunders Hsu, Catherine Goudie, Naureen Mushtaq, Ira Winer, Abeer Al-Battashi, Garth Nicholas, Roula Farah, Kami Wolfe Schneider, Rejin Kebudi, Jan Rapp, Gregory Thomas, Helen Toledano, Alvaro Lassaletta, Anne Bendel, Jeffrey Knipstein, Musa Alharbi, Gadi Abebe-Campino, Rose B. McGee, Anirban Das, Uri Tabori, Donald Basel, Alyssa Reddy, Melissa Edwards, Scott Lindhorst, Craig Harlos, Bailey Gallinger, Elizabeth Cairney, Anita Villani, Valerie Larouche, Rachel Pearlman, Maude Blundell, Gary Mason, David Sumerauer, Magnus Sabel, Aghiad Chamdin, Leslie Taylor, David Malkin, William D. Foulkes, Maura Massimino, Catherine Gilpin, Eric Bouffet, Miriam Bornhorst, Carol Durno, Enrico Opocher, Nobuko Hijiya, Zehavit Frenkel, David Samuel, Michal Lurye, Stefanie Zimmermann, Shani Caspi, Stefano Chiaravalli, David Gass, Eshetu G. Atenafu, Shlomi Constantini, Shay Ben-Shachar, Michal Yalon, Rina Dvir, Daniel Pettee, Bruce Crooks, Santanu Sen, Carl Koschmann, Raymond Bedgood, Theodore Nicolaides, Duncan Stearns, Yael Goldberg, Melissa Galati, Gabriel Robbins
Publikováno v:
Paediatrics Publications
Journal of Clinical Oncology, Vol. 39, no.25, p. 2779-2790 (2021)
Journal of Clinical Oncology, Vol. 39, no.25, p. 2779-2790 (2021)
PURPOSE Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc31eca9b2efe8b55ac14084ca85e170
https://doi.org/10.1200/jco.20.02636
https://doi.org/10.1200/jco.20.02636
Autor:
Jiil, Chung, Logine, Negm, Vanessa, Bianchi, Lucie, Stengs, Anirban, Das, Zhihui Amy, Liu, Sumedha, Sudhaman, Melyssa, Aronson, Ledia, Brunga, Melissa, Edwards, Victoria, Forster, Martin, Komosa, Scott, Davidson, Jodi, Lees, Patrick, Tomboc, David, Samuel, Roula, Farah, Anne, Bendel, Jeffrey, Knipstein, Kami Wolfe, Schneider, Agnes, Reschke, Shayna, Zelcer, Alexandra, Zorzi, Robert, McWilliams, William D, Foulkes, Raymond, Bedgood, Lindsay, Peterson, Sara, Rhode, An, Van Damme, Isabelle, Scheers, Sharon, Gardner, Gabriel, Robbins, Magimairajan Issai, Vanan, M Stephen, Meyn, Rebecca, Auer, Brandie, Leach, Carol, Burke, Anita, Villani, David, Malkin, Eric, Bouffet, Annie, Huang, Michael D, Taylor, Carol, Durno, Adam, Shlien, Cynthia, Hawkins, Gad, Getz, Yosef E, Maruvka, Uri, Tabori
Publikováno v:
Journal of Clinical Oncology, (2022)
Journal of Clinical Oncology, Vol. 41, no.4, p. 766-777 (2023)
Journal of Clinical Oncology, Vol. 41, no.4, p. 766-777 (2023)
PURPOSE Diagnosis of Mismatch Repair Deficiency (MMRD) is crucial for tumor management and early detection in patients with the cancer predisposition syndrome constitutional mismatch repair deficiency (CMMRD). Current diagnostic tools are cumbersome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adde6f3a5e0c86ef5cfefac454777ed4
https://pubmed.ncbi.nlm.nih.gov/36240479
https://pubmed.ncbi.nlm.nih.gov/36240479
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Autor:
Jutte van der Werff ten Bosch, Eva Hlaváčková, Charlotte Derpoorter, Ute Fischer, Francesco Saettini, Sujal Ghosh, Roula Farah, Delfien Bogaert, Rabea Wagener, Jan Loeffen, Chris M Bacon, Simon Bomken
Publikováno v:
PEDIATRIC HEMATOLOGY AND ONCOLOGY
Inborn errors of immunity (IEI) are a group of disorders caused by genetically determined defects in the immune system, leading to infections, autoimmunity, autoinflammation and an increased risk of malignancy. In some cases, a malignancy might be th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18ffbf36c3179666cb34bc48273f48d0
https://pubmed.ncbi.nlm.nih.gov/35913104
https://pubmed.ncbi.nlm.nih.gov/35913104