Zobrazeno 1 - 8
of 8
pro vyhledávání: '"10q microdeletion"'
Autor:
Roxana Popescu, Mihaela Grămescu, Lavinia Caba, Monica-Cristina Pânzaru, Lăcrămioara Butnariu, Elena Braha, Setalia Popa, Cristina Rusu, Georgeta Cardos, Monica Zeleniuc, Violeta Martiniuc, Cristina Gug, Luminiţa Păduraru, Maria Stamatin, Carmen C. Diaconu, Eusebiu Vlad Gorduza
Publikováno v:
Genes, Vol 12, Iss 1957, p 1957 (2021)
Genes
Genes
We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turrice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a9e67d95bacf6e8c60619b2b2a4201
https://www.mdpi.com/2073-4425/12/12/1957
https://www.mdpi.com/2073-4425/12/12/1957
Akademický článek
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Autor:
Preiksaitiene, Egle1 (AUTHOR) egle.preiksaitiene@mf.vu.lt, Tumienė, Birutė1 (AUTHOR), Maldžienė, Živilė1 (AUTHOR), Pranckevičienė, Erinija1 (AUTHOR), Morkūnienė, Aušra1 (AUTHOR), Utkus, Algirdas1 (AUTHOR), Kučinskas, Vaidutis1 (AUTHOR)
Publikováno v:
Ophthalmic Genetics. Jul/Aug2017, Vol. 38 Issue 4, p383-386. 4p.
Autor:
Dincsoy Bir, Firdevs, Silan, Fatma, Velickovic, Jelena, Berkay Akcan, Mehmet, Ozdemir, Ozturk
Publikováno v:
Molecular Syndromology; 2022, Vol. 13 Issue 3, p254-260, 7p
Autor:
Plaisancié, Julie1, Bouneau, Laurence2, Cances, Claude3, Garnier, Christelle1, Benesteau, Jacques3, Leonard, Samantha1, Bourrouillou, Georges2, Calvas, Patrick1, Vigouroux, Adeline2, Julia, Sophie1, Bieth, Eric1 bieth.e@chu-toulouse.fr
Publikováno v:
European Journal of Medical Genetics. Jan2014, Vol. 57 Issue 1, p47-53. 7p.
Autor:
Jacques Benesteau, Samantha Leonard, Julie Plaisancié, Patrick Calvas, Sophie Julia, Eric Bieth, Adeline Vigouroux, Laurence Bouneau, Christelle Garnier, Georges Bourrouillou, Claude Cances
Publikováno v:
European Journal of Medical Genetics. 57:47-53
Pure distal monosomy of the long arm of chromosome 10 is a rare cytogenetic abnormality. The location and size of the deletions described in this region are variable. Nevertheless, the patients share characteristic facial appearance, variable cogniti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7baa2a1197658d60d1e6edd4c0ceedc3
https://doi.org/10.1016/j.ejmg.2013.11.002
https://doi.org/10.1016/j.ejmg.2013.11.002
Autor:
Dhavendra Kumar, Perry Elliott
Consisting of contributions from experts in all specialties of cardiovascular genetics and applied clinical cardiology, Principles and Practice of Clinical Cardiovascular Genetics serves as the comprehensive volume for any clinician or resident in ca
Autor:
Verri, Annapia
This book provides professionals with the latest and most reliable information about genetic disorders and emphasizes the advantage of a lifespan multidisciplinary approach. The maturation of the brain, the environmental experiences and the mastery o