Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Bat El Bar-Aluma"'
Autor:
Maayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Michal Stern-Zimmer, Aviva Eliyahu, Annick Raas-Rothschild, Maayan Bivas, Omer Shlomovitz, Odelia Chorin, Rachel Rock, Michal Tzadok, Bruria Ben-Zeev, Gali Heimer, Yoav Bolkier, Noah Gruber, Adi Dagan, Bat El Bar Aluma, Itai M. Pessach, Gideon Rechavi, Ortal Barel, Ben Pode-Shakked, Yair Anikster, Asaf Vivante
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric su
Externí odkaz:
https://doaj.org/article/5ffe107900c941c4ab532f5edb295397
Autor:
Daphna Vilozni, Ori Efrati, Moshe Ashkenazi, I. Sarouk, Yael Bezalel, Bat El Bar Aluma, Alon Bak, Adi Dagan
Publikováno v:
The Clinical Respiratory Journal. 15:967-972
Background Pneumothorax can be classified as traumatic, iatrogenic or spontaneous (SP), which can be subdivided into primary spontaneous Pneumothorax (PSP) a condition without preexisting lung disease, or secondary spontaneous Pneumothorax (SSP) a co
Autor:
Henry Houlden, David A. Sweetser, Hesham Aldhalaan, Barry J. Byrne, Bruria Ben-Zeev, Gabriela M. Repetto, Bernt Popp, Yasemin Dincer, Karima Maher, Reza Maroofian, Omar Ismayl, Fowzan S. Alkuraya, Susanna Schubert, Wen-Hann Tan, Jens Meiler, Usha Kini, Parul Jayakar, Fatima Khan, Darius Ebrahimi-Fakhari, Stephanie Efthymiou, Gehad ElGhazali, Mais Hashem, Vijayalakshmi Salem Ramakumaran, Volker Mall, Robert J. Graham, Bat El Bar-Aluma, Maria Cecilia Poli, Rami Abou Jamra, Barbara Brechmann, Asma E. Al Nuaimi, Gali Heimer, Sonja Neuser, Amir Szeinberg, Ines Brösse, Christian Behrends, Angelika Seitz, Mandy Krumbiegel, Jennifer E. Posey, Amal Al Tenaiji, Lauren O’Grady, Michael Zech, Siddharth Srivastava, James R. Lupski, Basil T. Darras, Isabella Herman, Alistair T. Pagnamenta, Juliane Winkelmann, Shahnaz Ibrahim, Yael Haberman, Tatiana Muñoz
PURPOSEBi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework for t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7debe78904c5d1bb78a6c6b3d6d0964
https://mediatum.ub.tum.de/doc/1625236/document.pdf
https://mediatum.ub.tum.de/doc/1625236/document.pdf
Autor:
Kris De Boeck, Bat El Bar Aluma, I. Sarouk, Moshe Ashkenazi, Adi Dagan, L. Bentur, Saray Sity, Ori Efrati, Yael Bezalel
Publikováno v:
Journal of Asthma and Allergy
MosheAshkenazi,1,2SaraySity,2 IfatSarouk,1,2Bat El Bar Aluma,1,2AdiDagan,1,2YaelBezalel,1,2LeaBentur3 KrisDe Boeck,4 OriEfrati1,2 1Pediatric Pulmonology and National CF Center, Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat
Autor:
Ifat Sarouk, Huda Mussaffi, Dario Prais, Bat El Bar Aluma, Meir Mei-Zahav, Lea Bentur, Soliman Alkrinawi, Galit Livnat, Elie Picard, Malena Cohen-Cymberknoh, Ori Efrati, Moshe Ashkenazi, Patrick Stafler, Ori Inbar, Michal Shteinberg, Micha Aviram, Michal Gur, Hannah Blau, Fahed Hakim, David Shoseyov, Concetta Bormans, Joseph Rivlin, Eitan Kerem, Adi Dagan, Amihood Singer, Doron M. Behar, Gidon Akler
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan-population panels.
Autor:
Daphna Vilozni, Ori Efrati, Moshe Ashkenazi, Ifat Sarouk, Bat-El Bar-Aluma, Moran Lavie, Miryam Ofek, Michael J. Segel, Adi Dagan
Publikováno v:
Annals of the American Thoracic Society. 13:825-832
Expiratory flow limitation at resting tidal volume (EFLTV) presents a severe mechanical constraint in chronic lung diseases and has not yet been studied longitudinally in cystic fibrosis.To study the effect of EFLTV as it emerged from simple spiromet
Autor:
Netaly Khazanov, Bat El Bar Aluma, Malena Cohen-Cymberknoh, Moshe Ashkenazi, Shlomit Keler, Hanoch Senderowitz, Ifat Sarouk, Adi Dagan, Ori Efrati, Yael Bezalel
Publikováno v:
Respiratory Medicine. 170:106027
The Mutation I1234V is a CF causing mutation; however the mechanisms leading to loss of function are not fully understood. In this study, we aimed to characterize phenotypically individuals with the I1234V variant, and to gain a structural point of v
Publikováno v:
Clinical Autonomic Research. 30:597-597
Autor:
Moshe Ashkenazi, Bat-El Bar Aluma, Adi Dagan, Avishay Lahad, Ifat Sarouk, Ori Efrati, Lucy Norcliffe-Kaufmann, Yael Bezalel, Daphna Vilozni
Publikováno v:
Journal of pediatric gastroenterology and nutrition. 68(3)
Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy characterized by chronic lung disease and cyclic vomiting due to hyper-adrenergic crises. Most FD patients are in a depleted nutritional state; however, the phenotype of
Autor:
Moshe Ashkenazi, Saray Sity, Ifat Sarouk, Bat El Bar Aluma, Adi Dagan, Yael Bezalel, Lea Bentur, Kris De Boeck, Ori Efrati
Publikováno v:
Journal of Asthma and Allergy.
Ashkenazi M, Sity S, Sarouk I, et al. J Asthma Allergy. 2018;11:101–107.On page 101, in the Conclusion section, the text “omlaizumb” should have been “omalizumab”.Read the original article.