Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Sarit Ravid"'
Autor:
Yara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, Clair Habib, Sarit Ravid, Galit Tal, Mitchell Schertz, Adi Mory, Amihood Zinger, Hagit Baris Feldman, Rinat Zaid, Tamar Paperna, Karin Weiss
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100828- (2023)
Purpose: Exome sequencing (ES) is a powerful tool that facilitates the diagnosis of patients with rare Mendelian syndromes. In 2018 the Israeli Ministry of Health initiated a national pilot program that funds ES for outpatients with global developmen
Externí odkaz:
https://doaj.org/article/833fdf6b298b43b69d198cbbb5b6c64d
Autor:
Sewar Asakly, Ramit Magen-Rimon, Ahmad Ighbariya, Miriam Marjih-Shallufi, Tair Ben-Porat, Sarit Ravid, Ayelet Eran, Vardit Gepstein, Suhair Hanna, Ram Weiss
Publikováno v:
Obesity Facts, Vol 14, Iss 4, Pp 431-439 (2021)
Bariatric surgery is gaining acceptance as an efficient treatment modality for adults and adolescents with morbid obesity. The early postbariatric period has the potential to induce an immunomodulatory imbalance due to the development or worsening of
Externí odkaz:
https://doaj.org/article/6f3af8300ba3444cbe2e7db5fff35bca
Autor:
Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler
Publikováno v:
American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516
Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Delet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184
Publikováno v:
Neuropsychological Rehabilitation. 30:333-345
Studies have characterised relationships between cognitive status and a variety of clinical epilepsy factors. The aim of this study was to describe a new approach for assessing executive functions in everyday life and its unique expression in adolesc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ef55a757f462c9fc5cd2d1af9f8244
https://doi.org/10.1080/09602011.2018.1468272
https://doi.org/10.1080/09602011.2018.1468272
Autor:
Matias Wagner, Hava Hafner, Erez Y. Levanon, Alessandro Esposito, Antonio Falace, Silvia Giovedì, Antonio De Fusco, Tiziana Pisano, Sarit Ravid, Hanna Mandel, Davide Aprile, Ayelet Eran, Sarah L. Stenton, Saskia B. Wortmann, Annette Seibt, Maria Sabina Cerullo, Davide Mei, Valerio Conti, Daniella Magen, Carla Marini, Chiara Fiorillo, Felix Distelmaier, Ertan Mayatepek, Fabio Benfenati, Tilman Polster, Moran Gal, Anna Fassio, Renzo Guerrini
Publikováno v:
Brain 142, 3876-3891 (2019)
Ohtahara syndrome, early infantile epileptic encephalopathy with a suppression burst EEG pattern, is an aetiologically heterogeneous condition starting in the first weeks or months of life with intractable seizures and profound developmental disabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d23f148f4503df6db03ad4c9d81fa8b0
https://pubmed.ncbi.nlm.nih.gov/31840736
https://pubmed.ncbi.nlm.nih.gov/31840736
Publikováno v:
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 68
We aimed to identify the most common causes of acute ataxia in children in the era of widespread varicella vaccination and the yield of commonly used diagnostic work-up. This retrospective study reviewed the medical records of children who presented
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f7fead12a244d9f73aa5ca87452028d
https://pubmed.ncbi.nlm.nih.gov/31327588
https://pubmed.ncbi.nlm.nih.gov/31327588
Autor:
Daniella Militianu, Ahmad Haj, Yonatan Butbul Aviel, Sarit Ravid, Ram Weiss, Rana Swed-Tobia, Orly Eshach
Publikováno v:
Pediatric neurology. 94
Background Some children with autism spectrum disorder (ASD) have highly specific food selectivity and therefore are prone to nutritional deficiencies of different kinds. Patients We document three children with ASD who presented with refusal to walk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1b400cc4c5a8b1c06d9f5e04cb44a7
https://pubmed.ncbi.nlm.nih.gov/33485032
https://pubmed.ncbi.nlm.nih.gov/33485032
Publikováno v:
Journal of Pediatric Neurology. 11:083-088
Sensory processing abilities involve the registration and modulation of sensory information and the internal organi- zation of sensory input. These abilities are necessary for executing successful responses to the environmental demands and thus for m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2db006c5b7ad46b2b172bca6e4163a42
https://doi.org/10.3233/jpn-130600
https://doi.org/10.3233/jpn-130600
Publikováno v:
Journal of Child Neurology. 30:1448-1452
The purpose of this retrospective study was to evaluate the visual outcome and recurrence rate of idiopathic intracranial hypertension in children. The study included 68 patients who were diagnosed with idiopathic intracranial hypertension according
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37bcb5e4d451b5f446c43c93448ee78e
https://doi.org/10.1177/0883073815569306
https://doi.org/10.1177/0883073815569306
Autor:
Yoav Zehavi, Avraham Shaag, Sarit Ravid, Ronen Spiegel, Hanna Mandel, Erwin E. W. Jansen, Orly Elpeleg, Ayelet Eran, Muhammad Abu Rashid, Ann Saada, Mirjam M.C. Wamelink
Publikováno v:
METABOLIC BRAIN DISEASE, 34(2), 557-563. Springer New York
Zehavi, Y, Mandel, H, Eran, A, Ravid, S, Abu Rashid, M, Jansen, E E W, Wamelink, M M C, Saada, A, Shaag, A, Elpeleg, O & Spiegel, R 2019, ' Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review ', METABOLIC BRAIN DISEASE, vol. 34, no. 2, pp. 557-563 . https://doi.org/10.1007/s11011-019-0384-x
Zehavi, Y, Mandel, H, Eran, A, Ravid, S, Abu Rashid, M, Jansen, E E W, Wamelink, M M C, Saada, A, Shaag, A, Elpeleg, O & Spiegel, R 2019, ' Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review ', METABOLIC BRAIN DISEASE, vol. 34, no. 2, pp. 557-563 . https://doi.org/10.1007/s11011-019-0384-x
D-glycerate 2 kinase (DGK) is an enzyme that mediates the conversion of D-glycerate, an intermediate metabolite of serine and fructose metabolism, to 2-phosphoglycerate. Deficiency of DGK leads to accumulation of D-glycerate in various tissues and it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9dfd1b3bf8f3f771feadfae4313045a
https://pubmed.ncbi.nlm.nih.gov/30637540
https://pubmed.ncbi.nlm.nih.gov/30637540