Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Isabel, Filges"'
Autor:
Johanna Eichinger, Bernice S. Elger, Insa Koné, Isabel Filges, David Shaw, Bettina Zimmermann, Stuart McLennan
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-45 (2021)
Abstract Background The use of genome-wide sequencing in pediatric medicine and research is growing exponentially. While this has many potential benefits, the normative and empirical literature has highlighted various ethical issues. There have not b
Externí odkaz:
https://doaj.org/article/f29c4a628e6c45eda15c6f192409962e
Autor:
Nina Lenherr, John Christodoulou, John Duley, Doreen Dobritzsch, Lynette Fairbanks, Alexandre N. Datta, Isabel Filges, Nicolas Gürtler, Jeroen Roelofsen, André B.P. van Kuilenburg, Claudia Kemper, Erin E. West, Gabor Szinnai, Martina Huemer
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100709- (2021)
Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations in the PRPS1 gene (Xq22.3). PRPS1 is an initial and essential step for the synthesis of the nucleotides of purines, pyrimidines, and
Externí odkaz:
https://doaj.org/article/5a14f9f7c4834064a3a5b611e8e50b24
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Agnathia‐otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia, aglossia, and abnormally positioned auricles with or withou
Externí odkaz:
https://doaj.org/article/909095ed898541c3ad32938ab17a73b0
Publikováno v:
Prenatal Diagnosis.
Arthrogryposis, also termed arthrogryposis multiplex congenita, is a descriptive term for conditions with multiple congenital contractures (MCC). The etiology is extremely heterogeneous. More than 400 specific disorders have been identified so far, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d9791a7f14df89753a9355354293516
https://doi.org/10.1002/pd.6299
https://doi.org/10.1002/pd.6299
Autor:
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows including the extensive variant prioritization, annotation, and time-consuming
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b22a0ecd6ab22544aaa90fbfd38d1a39
https://doi.org/10.1101/2023.01.11.22283790
https://doi.org/10.1101/2023.01.11.22283790
Autor:
Isabel Filges
Publikováno v:
Transition bei neurologischen Erkrankungen ISBN: 9783662657232
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81509cedd3ab4548d2b96f868aacc03f
https://doi.org/10.1007/978-3-662-65724-9_23
https://doi.org/10.1007/978-3-662-65724-9_23
Publikováno v:
Bulletin des Médecins Suisses.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b2dfc3299ecc5d6368fad7fa579459eb
https://doi.org/10.4414/bms.2022.21273
https://doi.org/10.4414/bms.2022.21273
Publikováno v:
Schweizerische Ärztezeitung.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dab722346244aa137d44769772032edc
https://doi.org/10.4414/saez.2022.21273
https://doi.org/10.4414/saez.2022.21273
Autor:
Bettina M. Zimmermann, Johanna Eichinger, Isabel Filges, Bernice Simone Elger, Insa Koné, David Shaw, Stuart McLennan
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-45 (2021)
BMC Pediatrics
BMC Pediatrics
Background The use of genome-wide sequencing in pediatric medicine and research is growing exponentially. While this has many potential benefits, the normative and empirical literature has highlighted various ethical issues. There have not been, howe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e5be3af2d1b052937784e211e7f11d
https://doaj.org/article/f29c4a628e6c45eda15c6f192409962e
https://doaj.org/article/f29c4a628e6c45eda15c6f192409962e
Publikováno v:
Journal of Perinatal Medicine. 49:1003-1010
New genomic laboratory technology namely microarrays and high throughput sequencing (HTS) as well as a steady progress in sonographic image capture and processing have changed the practice of prenatal diagnosis during the last decade fundamentally. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff03bbeeac31541c087c7b7609e29a8
https://doi.org/10.1515/jpm-2021-0220
https://doi.org/10.1515/jpm-2021-0220