Zobrazeno 1 - 10
of 1 474
pro vyhledávání: '"HOLT-ORAM SYNDROME"'
Publikováno v:
The Egyptian Heart Journal, Vol 76, Iss 1, Pp 1-6 (2024)
Abstract Background Holt–Oram syndrome is a rare genetic disorder caused by a mutation in the TBX5 gene, combining skeletal and cardiac malformations. Vital prognosis depends essentially on cardiac involvement, while skeletal malformations determin
Externí odkaz:
https://doaj.org/article/55ae9808301b426f9964f7ce2b743adc
Autor:
Vanlerberghe, Clémence 1, 2, ∗, Jourdain, Anne Sophie 2, 3, Frenois, Frédéric 2, Ait-Yahya, Emilie 2, 4, Bamshad, Mike 5, Dieux, Anne 1, 2, Dufour, William 1, 2, Leduc, Fiona 1, 2, Manouvrier-Hanu, Sylvie 1, 2, Patterson, Karynne 6, Ghoumid, Jamal 1, 2, Escande, Fabienne 2, 3, Smol, Thomas 2, 7, Brunelle, Perrine 2, 7, Petit, Florence 1, 2
Publikováno v:
In Genetics in Medicine December 2024 26(12)
Publikováno v:
Indian Journal of Radiology and Imaging, Vol 34, Iss 02, Pp 347-350 (2024)
Holt-Oram syndrome comprises a rare spectrum of congenital cardiovascular and appendicular skeletal anomalies. However, only a few cases have reported lung involvement in Holt-Oram syndrome. We reported the rare case of a 1-year-old male child patien
Externí odkaz:
https://doaj.org/article/31ed1724c6cb4e38a6360e1de0f34368
Publikováno v:
Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia. Jul2018, Vol. 75 Issue 7, p730-733. 4p.
Autor:
Møller Nielsen, Anne Kathrine a, b, Dehn, Anna Maria a, Hjortdal, Vibeke a, Larsen, Lars Allan b, ∗
Publikováno v:
In European Journal of Medical Genetics April 2024 68
Autor:
Iwanicka-Pronicka, Katarzyna katarzynapronicka@gmail.com, Socha, Magdalena1 msocha@ump.edu.pl, Jędrzejowska, Maria2 mjedrzejowska@imdik.pan.pl, Krajewska-Walasek, Małgorzata2 m.walasek@czd.pl, Jamsheer, Aleksander jamsheer@wp.pl
Publikováno v:
SpringerPlus. 9/21/2016, Vol. 5 Issue 1, p1-5. 5p.
Autor:
Dreßen, Martina1 dressen@dhm.mhn.de, Lahm, Harald1, Lahm, Armin2, Wolf, Klaudia1, Doppler, Stefanie1, Deutsch, Marcus‐André1, Cleuziou, Julie1, Pabst von Ohain, Jelena1, Schön, Patric3, Ewert, Peter3, Malcic, Ivan4, Lange, Rüdiger1,5, Krane, Markus1,5
Publikováno v:
Molecular Genetics & Genomic Medicine. Sep2016, Vol. 4 Issue 5, p557-567. 11p.
Publikováno v:
Medical Bulletin of Sisli Etfal Hospital; 2023, Vol. 57 Issue 4, p563-566, 4p
Autor:
Barisic, Ingeborg1 ingeborg.barisic@kdb.hr, Boban, Ljubica1 ljubica.boban7@gmail.com, Greenlees, Ruth2 R.Greenlees@ulster.ac.uk, Garne, Ester3 ester.garne@rsyd.dk, Wellesley, Diana4 dgw@soton.ac.uk, Calzolari, Elisa5 nvm@unife.it, Addor, Marie-Claude6 marie-claude.addor@chuv.ch, Arriola, Larraitz7 l-arriola@ej-gv.es, Bergman, Jorieke E. H.8 j.e.h.van.kammen@umcg.nl, Braz, Paula9 carlos.dias@insa.min-saude.pt, Budd, Judith L. S.10 jlsb1@leicester.ac.uk, Gatt, Miriam11 miriam.gatt@gov.mt, Haeusler, Martin12 martin.haeusler@medunigraz.at, Khoshnood, Babak13 babak.khoshnood@inserm.fr, Klungsoyr, Kari14 kari.klungsoyr@fhi.no, McDonnell, Bob15 bob.mcdonnell@hse.ie, Nelen, Vera16 vera.nelen@pih.provant.be, Pierini, Anna17 apier@ifc.cnr.it, Queisser-Wahrendorf, Annette18 queisser@kinder.klinik.uni-mainz.de, Rankin, Judith19 judith.rankin@ncl.ac.uk
Publikováno v:
Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p1-19. 19p.
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