Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Magdalena Cabała"'
Autor:
Robert Smigiel, Hirofumi Kodera, Naomichi Matsumoto, Maria M. Sasiadek, Marek Sasiadek, Hirotomo Saitsu, Aleksandra Jakubiak, Magdalena Cabała
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 106:304-307
Background A clinical case is described of growth retardation, severe developmental delay, facial dysmorphic features with microcephaly, as well as congenital cataract, schizencephaly, periventricular calcifications, and epilepsy. Methods TORCH infec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b20f3631fdcb4d5c0dea80071397d9c
https://doi.org/10.1002/bdra.23488
https://doi.org/10.1002/bdra.23488
Autor:
Jowita Halupczok-Żyła, Marek Bolanowski, Zenon Halaba, Diana Jędrzejuk, Magdalena Cabała, Kornel Mikołajczyk, Agata Mierzwicka, Anna Noczyńska, Beata Wikiera, Aleksander Basiak
Publikováno v:
Advances in clinical and experimental medicine : official organ Wroclaw Medical University. 27(6)
Background. Studies using dual energy X-ray absorptiometry (DXA) demonstrate a reduction in bone mineral density (BMD) in children and adolescents with Turner syndrome (TS). However, these studies do not take into account changes in bone size, which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71409a3849c20b6f9dec707152a863dd
https://pubmed.ncbi.nlm.nih.gov/29877636
https://pubmed.ncbi.nlm.nih.gov/29877636
Autor:
Joanna Kosińska, Karolina Matuszewska, Maria M. Sasiadek, Tomasz Żemojtel, Małgorzata Rydzanicz, Anna Biernacka, Rafał Płoski, Robert Śmigiel, Magdalena Cabała, Magdalena Badura-Stronka, Anna Winczewska-Wiktor, Anna Latos-Bielenska
Publikováno v:
Clinical dysmorphology. 27(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909f4aa5e7e088349795e37e83db5e5d
https://pubmed.ncbi.nlm.nih.gov/29389715
https://pubmed.ncbi.nlm.nih.gov/29389715
Autor:
Agnieszka Stembalska, Małgorzata Piotrowicz, Maria M. Sąsiadek, Robert Śmigiel, Lucjusz Jakubowski, Magdalena Cabała, Izabela Łaczmańska
Publikováno v:
Pediatria Polska. 90:181-189
Introduction Deletion of chromosome 22q11.2, which causes DiGeorge syndrome, is one of the most frequently diagnosed microdeletion syndromes in the human. It is characterised by a wide variety of symptoms. The main symptoms consist of congenital hear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::960609f4622542a195bcedf4664d6bd4
https://doi.org/10.1016/j.pepo.2015.02.004
https://doi.org/10.1016/j.pepo.2015.02.004
Publikováno v:
Clinical Dysmorphology, 22(4), 146-148. LIPPINCOTT WILLIAMS & WILKINS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb9e12e638acbd32bd840438df0eb3eb
https://doi.org/10.1097/mcd.0b013e3283645a30
https://doi.org/10.1097/mcd.0b013e3283645a30
Autor:
Iwona Kardaś, Janusz Limon, Robert Śmigiel, Ryszard Ślęzak, Mariola Iliszko, Magdalena Koczkowska, Magdalena Cabała, Jolanta Wierzba, Beata S. Lipska-Ziętkiewicz, Maria M. Sąsiadek
Publikováno v:
Journal of Applied Genetics
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad4823bb4099947b7680e00804942a0