Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Joanna Skołożdrzy"'
Autor:
Jolanta Andrzejewska, Katarzyna Lacka, Maciej R Krawczyński, Adam Czyzyk, Alina Wojda, Anna Latos-Bielenska, Joanna Skołożdrzy
Publikováno v:
The Endocrinologist. 20:283-285
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5d3a625c784d6262a211e9b5d48d40a
https://doi.org/10.1097/ten.0b013e3181fcfeba
https://doi.org/10.1097/ten.0b013e3181fcfeba
Autor:
Aleksander Jamsheer, Maria Fischer, Anna Woźniak, Jolanta Wierzba, Jolanta Kołowska, Anna Latos-Bielenska, Joanna Skołożdrzy, Marta Smyk
Publikováno v:
Journal of applied genetics. 49(4)
We report on 3 kindred patients with terminal 11q monosomy and distal 22q trisomy involving the SHANK3 gene, resulting from a subtle familial translocation t(11;22)(q24.2;q13.33). The patients presented with the characteristic symptoms of Jacobsen sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8100885be5f119143ae7cde09d4ce468
https://pubmed.ncbi.nlm.nih.gov/19029687
https://pubmed.ncbi.nlm.nih.gov/19029687
Autor:
Renata Glazar, Aldona Siwińska, Danuta Wolnik-Brzozowska, Ryszard Słomski, Anna Wozniak, Tomasz Moszura, Anna Latos-Bielenska, Joanna Skołożdrzy, Waldemar Bobkowski, Maciej R Krawczyński, Magdalena Badura-Stronka, Marzena Wisniewska, Joanna Zeyland, Anna Materna-Kiryluk
Publikováno v:
BASE-Bielefeld Academic Search Engine
BMC Pediatrics, Vol 10, Iss 1, p 88 (2010)
BMC Pediatrics
BMC Pediatrics, Vol 10, Iss 1, p 88 (2010)
BMC Pediatrics
Background The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c759627e8ae9cbd8fb2936b05b08c423
https://doi.org/10.1186/1471-2431-10-88
https://doi.org/10.1186/1471-2431-10-88
