Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Multiple Congenital Abnormalities"'
Autor:
Danijel Bursac, MD, PhD, Katarina Bojanic, MD, PhD, Jasenka Zmijanac Partl, MD, PhD, Dejana Lucic, MD, Zeljko Duic, MD, PhD, Marta Horvat, MD
Publikováno v:
Radiology Case Reports, Vol 18, Iss 1, Pp 364-367 (2023)
OEIS complex is an acronym for a specific, extremely rare, grouping of more commonly occurring congenital malformations consisting of an omphalocele (O), exstrophy of the cloaca (E), imperforate anus (I) and spinal defects (S). It is a midline defect
Externí odkaz:
https://doaj.org/article/55da5a84f85d4036a4ee519efa815e9e
Autor:
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
Summary: WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of h
Externí odkaz:
https://doaj.org/article/c93dab48c10f4d9a93b8d87c61542fd8
Akademický článek
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Akademický článek
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Autor:
Danijel Bursac, Katarina Bojanic, Jasenka Zmijanac Partl, Dejana Lucic, Zeljko Duic, Marta Horvat
OEIS complex is an acronym for a specific, extremely rare, grouping of more commonly occurring congenital malformations consisting of an omphalocele (O), exstrophy of the cloaca (E), imperforate anus (I) and spinal defects (S). It is a midline defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d936ea8be252176f727c51d0ad68f7e7
https://doi.org/10.1016/j.radcr.2022.10.065
https://doi.org/10.1016/j.radcr.2022.10.065
Autor:
Ammar Albanna, Maha El Naofal, Ahmad N. Abou Tayoun, Mohammed Uddin, Zeinab Alloub, Yasmeen Qutub, Nour Abu Mahfouz, Walid Abuhammour, Alan Taylor, Divinlal Harilal, Alia Ibrahim, Basil M Fathalla, Sathishkumar Ramaswamy, Praseetha Kizhakkedath
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 1020-1027 (2020)
Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal
Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with a reported average diagnostic yield of ~25% in this patient poulation. The utility of CES in the United Arab Emirates (UAE) has not been pr
Autor:
J. G. Damasceno, Roberta Lelis Dutra, Marília M. Montenegro, Leslie Domenici Kulikowski, Thaís Virgínia Moura Machado Costa, Flavia Balbo Piazzon, Maria Isabel Melaragno, Chong Ae Kim, Evelin Aline Zanardo, Gil M. Novo-Filho, Alexandre T. Dias, F. A. R. Madia, Amom M. Nascimento
Publikováno v:
Clinics, Vol 72, Iss 9, Pp 526-537
Clinics
Clinics, Volume: 72, Issue: 9, Pages: 526-537, Published: SEP 2017
Clinics; v. 72 n. 9 (2017); 526-537
Clinics; Vol. 72 Núm. 9 (2017); 526-537
Clinics; Vol. 72 No. 9 (2017); 526-537
Universidade de São Paulo (USP)
instacron:USP
Clinics
Clinics, Volume: 72, Issue: 9, Pages: 526-537, Published: SEP 2017
Clinics; v. 72 n. 9 (2017); 526-537
Clinics; Vol. 72 Núm. 9 (2017); 526-537
Clinics; Vol. 72 No. 9 (2017); 526-537
Universidade de São Paulo (USP)
instacron:USP
OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is impo
OEIS complex is an acronym for a specific, extremely rare, grouping of more commonly occurring congenital malformations consisting of an omphaolocele (O), extrophy of cloaca (C), imperforate anus (I) and spinal defects (S). It is a midline defect occ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::7fa8efc25705e1276364726ed8babb36
https://www.bib.irb.hr/1087564
https://www.bib.irb.hr/1087564
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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