المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski

المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)

مصطلحات موضوعية: cranioectodermal dysplasia, CED, ciliopathy, second-stage renal disease, hURECs, WDR35, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1285790/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/0e0d5cf622d04179ab39c703254bd1dc

المؤلفون: Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Aleksander Jamsheer

المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)

مصطلحات موضوعية: split-hand/foot malformation type 1, ectrodactyly, 7q21.3, DLX5/6, structural variants, SYT1, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1250714/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/c356fd9be67a45c69532cb8d09bcf961

المؤلفون: Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Dawid Larysz, Paweł Gawliński, Grzegorz Koczyk, Delfina Popiel, Lidia Gurba-Bryśkiewicz, Anna Materna-Kiryluk, Zuzanna Adamek, Aleksandra Szczepankiewicz, Paweł Dominiak, Filip Glista, Karolina Matuszewska, Aleksander Jamsheer

المصدر: Frontiers in Molecular Biosciences, Vol 9 (2022)

مصطلحات موضوعية: calvarial sutures, craniosynostosis, next-generation sequencing, chromosomal microarray analysis, cohort screening, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2022.865494/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/fbd552ed03f34a65b30b004ba44b40f1

المؤلفون: Aleksandra Szczawińska-Popłonyk, Elzbieta Grześk, Eyal Schwartzmann, Anna Materna-Kiryluk, Jadwiga Małdyk

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: autoimmune lymphoproliferative syndrome, chronic active Epstein-Barr virus infection, lymphoproliferation, children, immunodeficiency–primary, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.798959/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/e3aee73dec1541c7a6c6cf5df7ebf0ff

المؤلفون: Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: facial dysostoses, mandibulofacial dysostoses, acrofacial dysostoses, pharyngeal arch, rare diseases, craniofacial development, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.580477/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/9f39505d44384785b30bd0eea60b55f6

المؤلفون: Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlińska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michał Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Pawel Gawlinski, Wojciech Wiszniewski

المصدر: Genes, Vol 12, Iss 12, p 2014 (2021)

مصطلحات موضوعية: molecular genetics, neurology, high-throughput nucleotide sequencing, medical genetics, human genetics, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/12/2014; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/f50d3741c7df43adb6d63fef3d6057b7

المؤلفون: Anna Materna-Kiryluk, Katarzyna Wisniewska, Barbara Wieckowska, Jolanta Wierzba, Anna Jazdzewska, Beata Jaroszewska-Swiatek, Kinga Skotnicka, Anna Latos-Bielenska

المصدر: Children, Vol 8, Iss 2, p 138 (2021)

مصطلحات موضوعية: congenital abnormalities, limb deformities, congenital, risk factors, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/8/2/138; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/0441a766e66742cb82b031e4e873407f

المؤلفون: Joan K. Morris, Diana Wellesley, Elizabeth Limb, Jorieke E. H. Bergman, Agnieszka Kinsner‐Ovaskainen, Marie Claude Addor, Jennifer M. Broughan, Clara Cavero‐Carbonell, Carlos M. Dias, Luis‐Javier Echevarría‐González‐de‐Garibay, Miriam Gatt, Martin Haeusler, Ingeborg Barisic, Kari Klungsoyr, Nathalie Lelong, Anna Materna‐Kiryluk, Amanda Neville, Vera Nelen, Mary T. O'Mahony, Isabelle Perthus, Anna Pierini, Judith Rankin, Anke Rissmann, Florence Rouget, Geraldine Sayers, Sarah Stevens, David Tucker, Ester Garne

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Birth defects research, 114(20), 1417-1426. Wiley
Birth Defects Research
r-FISABIO. Repositorio Institucional de Producción Científica
instname

مصطلحات موضوعية: Embryology, Vascular Malformations, Registo Nacional de Anomalias Congénitas, Health, Toxicology and Mutagenesis, Cardiovascular Abnormalities, Toxicology, European Surveillance of Congenital Anomalies, vascular, Pregnancy, EUROCAT, Prevalence, Humans, Gastroschisis, anomalies, congenital, disruption, surveillance, Portugal, RENAC, Congenital Anomalies, Estados de Saúde e de Doença, Observação em Saúde e Vigilância, United Kingdom, Europe, Vascular Disruption, Pediatrics, Perinatology and Child Health, Female, Developmental Biology, Maternal Age

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c102c9464c324fb641783ed33d64ecdc
https://research.rug.nl/en/publications/65d07439-9406-4c1e-b5e6-1b0283131f71

المؤلفون: Anna Materna-Kiryluk, Katarzyna Wiśniewska, Barbara Więckowska, Katarzyna Wróblewska-Seniuk, Beata Jaroszewska-Świątek, Ewa Helwich, Anna Latos-Bieleńska

المصدر: Children, Vol 7, Iss 10, p 150 (2020)

مصطلحات موضوعية: infant hemangiomas, risk factors, hereditary predisposition, vascular malformations, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/7/10/150; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/ffcd906a7472408c883a5e13e81a9d95

المؤلفون: Anna Materna-Kiryluk, Barbara Więckowska, Katarzyna Wiśniewska, Małgorzata Czyżewska, Urszula Godula-Stuglik, Małgorzata Baumert, Ryszard Margol, Anna Latos-Bieleńska

المصدر: International Journal of Occupational Medicine and Environmental Health, Vol 29, Iss 3, Pp 461-470 (2016)

مصطلحات موضوعية: gastroschisis, omphalocele, congenital malformations, scan statistic, spatial and temporal clusters, epidemiology, Medicine

وصف الملف: electronic resource

Relation: http://ijomeh.eu/Geospatial-clustering-of-gastroschisis-in-Poland-Data-from-the-Polish-Registry-nof-Congenital-Malformations-PRCM-,58664,0,2.html; https://doaj.org/toc/1232-1087; https://doaj.org/toc/1896-494X

URL الوصول: https://doaj.org/article/61184d45b69a4c75839ceb00c0f3dd29