Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jasmine Knoll"'
Autor:
John Bernat, Eric Wallace, Ozlem Goker-Alpan, William Wilcox, Myrl Holida, Nicola Longo, Derralynn Hughes, Pilar Giraldo, Maria Molnar, Damara Ortiz, Robert Hopkin, Camilla Tondel, Ales Linhart, Patrick Deegan, Ana Jovanovic, Michael Muriello, Bruce Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Hiwot, Antonio Pisani, Dominique Germain, Ilkka Kantola, Jasmine Knoll, Ankit Mehta, Stephen Waldek, Einat Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, David Warnock
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100015- (2023)
Externí odkaz:
https://doaj.org/article/343c76656a104fd8b64b93bc346cad1b
Autor:
RaeLynn Forsyth, Melissa A. Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P. Brooks, Wadih M. Zein, William A. Gahl, Camilo Toro, Meral Gunay‐Aygun
Publikováno v:
Am J Med Genet C Semin Med Genet
Joubert syndrome (JS) is a neurodevelopmental disorder characterized by hypotonia and developmental delay, as well as the obligatory molar tooth sign on brain imaging. Since hypotonia and developmental delay are nonspecific features, there must be a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51deaad35ee307542c96f454a29d3d4
https://doi.org/10.1002/ajmg.c.31966
https://doi.org/10.1002/ajmg.c.31966
Autor:
Tarek Meah, Joann Bodurtha, Kristen Schratz, Jasmine Knoll, Elizabeth Helmke, Christine A. Pratilas, Ashley Li, Christy H. Smith, Stacy Cooper
Publikováno v:
Journal of Pediatric Hematology/Oncology. 43:e891-e896
Implementation and adherence to consensus statement criteria for referral of pediatric cancer patients for genetic evaluation are critical to identify the 5% to 10% with a genetic cancer predisposition syndrome. The authors implemented a Plan-Do-Stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f621230824a452abcd34d97c8be2b450
https://doi.org/10.1097/mph.0000000000001987
https://doi.org/10.1097/mph.0000000000001987
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(3)
Joubert syndrome (JS) is a genetically heterogenous disorder of nonmotile cilia with a characteristic "molar tooth sign" on axial brain imaging. Clinical features can include developmental delay, kidney failure, liver disease, and retinal dystrophy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94c08b05664ae7259dd020735b492841
https://pubmed.ncbi.nlm.nih.gov/34951506
https://pubmed.ncbi.nlm.nih.gov/34951506
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 71:e73-e75
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47f404ea0f5d1eef85633bf61c6bcb93
https://doi.org/10.1097/mpg.0000000000002698
https://doi.org/10.1097/mpg.0000000000002698
Autor:
Jasmine Knoll, Jeanne Amiel, Olaf Bodamer, Urania Kotzaeridou, Giulia Barcia, Carol J Saunders, Isabelle Thiffault, Theresa Brunet, Tomislav Glavan, Ivana Mihalek
Publikováno v:
Molecular Genetics and Metabolism. 132:S177
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::844201930948eeb29684987486bb4b8f
https://doi.org/10.1016/s1096-7192(21)00363-2
https://doi.org/10.1016/s1096-7192(21)00363-2