Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Maximilian E. R. Weiss"'
Autor:
Andrei Puiu, Carlos Gómez Tapia, Maximilian E. R. Weiss, Vivek Singh, Ali Kamen, Matthias Siebert
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract The heterogeneous pathogenesis and treatment response of non-small cell lung cancer (NSCLC) has led clinical treatment decisions to be guided by NSCLC subtypes, with lung adenocarcinoma and lung squamous cell carcinoma being the most common
Externí odkaz:
https://doaj.org/article/ae36d853a6434ab99feb811fa6cf05c0
Autor:
Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann, Arndt Rolfs
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-6 (2019)
Abstract Background Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID). Methods Exome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macr
Externí odkaz:
https://doaj.org/article/2826930482f34a698b26ee6b0e414fb7
Autor:
Victor Krajka, Arndt Rolfs, Joanne Trinh, Rami Abou Jamra, Kristian Tveten, Geir J. Braathen, Rabea Affan, Mohammed Al Balwi, Frauke Hinrichs, Øystein L. Holla, Marija Dulovic-Mahlow, Maximilian E. R. Weiss, Nataliya Di Donato, Shivendra Kishore, Skadi Beblo, Martin Werber, Krishna Kumar Kandaswamy, Elisa Rahikkala, Katja Lohmann, Nouriya Al-Sannaa, Øyvind L. Busk, Gabriela Oprea, Hauke Baumann, Nir Navot, Anne-Karin Kahlert, Melissa Vos
Publikováno v:
The American Journal of Human Genetics. 105:213-220
De novo variants represent a significant cause of neurodevelopmental delay and intellectual disability. A genetic basis can be identified in only half of individuals who have neurodevelopmental disorders (NDDs); this indicates that additional causes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a1c3003604ddf1836c9655987c0557
https://doi.org/10.1016/j.ajhg.2019.05.005
https://doi.org/10.1016/j.ajhg.2019.05.005
Autor:
Katja Lohmann, Martin Werber, Maximilian E. R. Weiss, Shivendra Kishore, Arndt Rolfs, Gabriela Oprea, Joanne Trinh, Krishna Kumar Kandaswamy
Publikováno v:
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-6 (2019)
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-6 (2019)
Background Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID). Methods Exome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macrocephaly,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea01c2ce348a6efe1f09bd6dd53267bf
https://doi.org/10.1186/s11689-019-9270-4
https://doi.org/10.1186/s11689-019-9270-4
Autor:
Jose Maria Garcia-Aznar, Waleed Al-Twaijri, Ahmed Al-Rumayyan, Aida M. Bertoli-Avella, Rami Abou Jamra, Omid Paknia, Anett Marais, Karen Wessel, Oliver Brandau, Rolf Schröder, Julia Köster, Maria Calvo del Castillo, Majid Alfadhel, Krishna Kumar Kandaswamy, Ali Alothaim, Amal Alhashem, Shivendra Kishore, Martin Werber, Daniel Trujillano, Nouriya Al-Sannaa, Maximilian E. R. Weiss, Arndt Rolfs, Mohammed AlBalwi, Muhammad Talal Al Rifai, Nahid Nahavandi, Wafaa Eyaid, Caterina Baldi
Publikováno v:
European Journal of Human Genetics
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1d859096a6b2606e713082b48d5edf5
https://doi.org/10.1038/ejhg.2016.146
https://doi.org/10.1038/ejhg.2016.146
Autor:
Sabrina Eichler, Maximilian E. R. Weiss, Arndt Rolfs, Jenny Creed, Efstathios B. Papachristos, Erol Baysal, Martin Werber, Julia Köster, Iqbal Yousuf Jaber, Krishna Kumar Kandaswamy, Anett Marais, Chantal Farra, Dina A. Mehaney, Daniel Trujillano
Publikováno v:
Molecular Genetics & Genomic Medicine
Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fc73e1e93128da283d32bfedb460369
https://doi.org/10.1002/mgg3.149
https://doi.org/10.1002/mgg3.149
Autor:
Christof Schütte, Maximilian E. R. Weiss, Anatoly N. Nikitin, Florian Paulus, Rainer Haag, Dirk Steinhilber
Publikováno v:
Macromolecules. 46:8458-8466
We have investigated the anionic ring-opening multibranching polymerization for hyperbranched polyglycerol using slow monomer addition at 120 °C. Different molecular masses were targeted, and the reaction mixture was probed at regular intervals for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5307f9394dd53b006765b7ea71e2ecb6
https://doi.org/10.1021/ma401712w
https://doi.org/10.1021/ma401712w
Autor:
Arndt Rolfs, Lejla Kovacevic, Viatcheslav Saviouk, Daniel Trujillano, Nahid Nahavandi, Efstathios B. Papachristos, Tetyana Zakharkina, Juliane Schneider, Julia Köster, Maximilian E. R. Weiss
Publikováno v:
The Journal of molecular diagnostics : JMD. 17(2)
Genetic testing for hereditary breast and/or ovarian cancer mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the BRCA1 and BRCA2 genes. We explored a more efficient genetic screening strategy based on nex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a823c2d73fc6d9de1b5f51ddb0d5e92b
https://pubmed.ncbi.nlm.nih.gov/25556971
https://pubmed.ncbi.nlm.nih.gov/25556971