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Reclassification of genetic variants in children with long QT syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1300
By:
- Westphal, Dominik S.;
- Burkard, Tobias;
- Moscu‐Gregor, Alexander;
- Gebauer, Roman;
- Hessling, Gabriele;
- Wolf, Cordula M.
Publication type:
Article
The Role of RYR2 in Atrial Fibrillation.
Published in:
2023
By:
- Boehm, Bernhard M.;
- Gaa, Jochen;
- Hoppmann, Petra;
- Martens, Eimo;
- Westphal, Dominik S.
Publication type:
Case Study
Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 1-3.
Published in:
Cardiogenetics, 2022, v. 12, n. 1, p. 90, doi. 10.3390/cardiogenetics12010009
By:
- Burkard, Tobias;
- Sebastian Westphal, Dominik;
- Markel, Franziska;
- Gebauer, Roman Antonin;
- Hessling, Gabriele;
- Wolf, Cordula Maria
Publication type:
Article
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00873-3
By:
- Yap, Zheng Yie;
- Park, Yo Han;
- Wortmann, Saskia B.;
- Gunning, Adam C.;
- Ezer, Shlomit;
- Lee, Sukyeong;
- Duraine, Lita;
- Wilichowski, Ekkehard;
- Wilson, Kate;
- Mayr, Johannes A.;
- Wagner, Matias;
- Li, Hong;
- Kini, Usha;
- Black, Emily Davis;
- Monaghan, Kristin G.;
- Lupski, James R.;
- Ellard, Sian;
- Westphal, Dominik S.;
- Harel, Tamar;
- Yoon, Wan Hee
Publication type:
Article
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 469, doi. 10.1002/ajmg.a.63044
By:
- Roessler, Franziska;
- Beck, Anita E.;
- Susie, Ball;
- Tobias, Bartolomaeus;
- Begtrup, Amber;
- Biskup, Saskia;
- Caluseriu, Oana;
- Delanty, Norman;
- Fröhlich, Christine;
- Greally, Marie T.;
- Karnstedt, Maike;
- Klöckner, Chiara;
- Kurtzberg, Joanne;
- Schubert, Susanna;
- Schulze, Martin;
- Weidenbach, Michael;
- Westphal, Dominik S.;
- White, Maire;
- Wolf, Cordula M.;
- Zyskind, Jacob
Publication type:
Article
The role of genetics in fetal bradycardia.
Published in:
Cardiology in the Young, 2022, v. 32, p. S67
By:
- Westphal, Dominik;
- Shoukier, Mouneef;
- Zuther, Ines;
- Schramm, Thomas;
- Hauser, Michael;
- Ostermayer, Eva;
- Hessling, Gabriele;
- Fritz, Renate Oberhoffer;
- Gussmann, Annette Wacker
Publication type:
Article
Do children with congenital heart defects meet the vaccination recommendations? Immunisation in children with congenital heart defects.
Published in:
Cardiology in the Young, 2022, v. 32, n. 7, p. 1143, doi. 10.1017/S1047951121003887
By:
- Remmele, Julia;
- Westphal, Dominik S.;
- Unterleitner, Carolin;
- Becker, Romy;
- Oberhoffer-Fritz, Renate;
- Hager, Alfred;
- Ewert, Peter;
- Wacker-Gussmann, Annette
Publication type:
Article
The role of genetics in fetal bradycardia.
Published in:
Cardiology in the Young, 2022, v. 32, n. S2, p. S67, doi. 10.1017/S1047951122001950
By:
- Westphal, Dominik;
- Shoukier, Mouneef;
- Zuther, Ines;
- Schramm, Thomas;
- Hauser, Michael;
- Ostermayer, Eva;
- Hessling, Gabriele;
- Fritz, Renate Oberhoffer;
- Gussmann, Annette Wacker
Publication type:
Article
Fetal Bradycardia Caused by Monogenic Disorders—A Review of the Literature.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 23, p. 6880, doi. 10.3390/jcm11236880
By:
- Westphal, Dominik S.;
- Hauser, Michael;
- Beckmann, Britt-Maria;
- Wolf, Cordula M.;
- Hessling, Gabriele;
- Oberhoffer-Fritz, Renate;
- Wacker-Gussmann, Annette
Publication type:
Article
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 4, p. e35, doi. 10.1111/epi.17188
By:
- Vogel, Florian D.;
- Krenn, Martin;
- Westphal, Dominik S.;
- Graf, Elisabeth;
- Wagner, Matias;
- Leiz, Steffen;
- Koniuszewski, Filip;
- Augé‐Stock, Maximilian;
- Kramer, Georg;
- Scholze, Petra;
- Ernst, Margot
Publication type:
Article
Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 11, p. 2317, doi. 10.1002/acn3.50895
By:
- Krenn, Martin;
- Ernst, Margot;
- Tomschik, Matthias;
- Treven, Marco;
- Wagner, Matias;
- Westphal, Dominik S.;
- Meitinger, Thomas;
- Pataraia, Ekaterina;
- Zimprich, Fritz;
- Aull‐Watschinger, Susanne
Publication type:
Article
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 968, doi. 10.1002/acn3.768
By:
- Krenn, Martin;
- Knaus, Alexej;
- Westphal, Dominik S.;
- Wortmann, Saskia B.;
- Polster, Tilman;
- Woermann, Friedrich G.;
- Karenfort, Michael;
- Mayatepek, Ertan;
- Meitinger, Thomas;
- Wagner, Matias;
- Distelmaier, Felix
Publication type:
Article
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.
Published in:
2019
By:
- NICULESCU, Luana;
- WAGNER, Matias;
- WESTPHAL, Dominik S.;
- FISCHER, Marcus;
- MIHATSCH, Walter;
- PROTHMANN, Anke;
- RUZICKA, Thomas;
- WOLLENBERG, Andreas;
- WOLFF, Hans;
- SCHMIDT, Heinrich;
- GIEHL, Kathrin A.
Publication type:
Case Study
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center.
Published in:
Clinical Genetics, 2021, v. 100, n. 1, p. 14, doi. 10.1111/cge.13946
By:
- Brunet, Theresa;
- Jech, Robert;
- Brugger, Melanie;
- Kovacs, Reka;
- Alhaddad, Bader;
- Leszinski, Gloria;
- Riedhammer, Korbinian M.;
- Westphal, Dominik S.;
- Mahle, Isabella;
- Mayerhanser, Katharina;
- Skorvanek, Matej;
- Weber, Sandrina;
- Graf, Elisabeth;
- Berutti, Riccardo;
- Necpál, Ján;
- Havránková, Petra;
- Pavelekova, Petra;
- Hempel, Maja;
- Kotzaeridou, Urania;
- Hoffmann, Georg F.
Publication type:
Article
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 582, doi. 10.1111/cge.13536
By:
- Westphal, Dominik S.;
- Leszinski, Gloria S.;
- Rieger‐Fackeldey, Esther;
- Graf, Elisabeth;
- Weirich, Gregor;
- Meitinger, Thomas;
- Ostermayer, Eva;
- Oberhoffer, Renate;
- Wagner, Matias
Publication type:
Article
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.
Published in:
Journal of Neurology, 2023, v. 270, n. 3, p. 1501, doi. 10.1007/s00415-022-11401-7
By:
- Härtl, Johanna;
- Hartberger, Julia;
- Wunderlich, Silke;
- Cordts, Isabell;
- Bafligil, Cemsel;
- Sturm, Marc;
- Westphal, Dominik;
- Haack, Tobias;
- Hemmer, Bernhard;
- Ikenberg, Benno David;
- Deschauer, Marcus
Publication type:
Article
MAP2 - A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34.
Published in:
Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00099
By:
- Westphal, Dominik S.;
- Andres, Stephanie;
- Makowski, Christine;
- Meitinger, Thomas;
- Hoefele, Julia
Publication type:
Article
Telemedical monitoring in patients with inborn cardiac disease – experience of a tertiary care centre.
Published in:
Mammalian Genome, 2023, v. 34, n. 2, p. 323, doi. 10.1007/s00335-022-09972-x
By:
- Westphal, Dominik S.;
- Federle, David;
- Steger, Alexander;
- Vodermeier, Tanja;
- Scheiper-Welling, Stefanie;
- Jenewein, Tina;
- Beckmann, Britt-Maria;
- Kauferstein, Silke;
- Martens, Eimo;
- Hahn, Franziska
Publication type:
Article
Smart hospital: achieving interoperability and raw data collection from medical devices in clinical routine.
Published in:
Frontiers in Digital Health, 2024, p. 1, doi. 10.3389/fdgth.2024.1341475
By:
- Martens, Eimo;
- Haase, Hans-Ulrich;
- Mastella, Giulio;
- Henkel, Andreas;
- Spinner, Christoph;
- Hahn, Franziska;
- Congyu Zou;
- Sanches, Augusto Fava;
- Allescher, Julia;
- Heid, Daniel;
- Strauss, Elena;
- Maier, Melanie-Maria;
- Lachmann, Mark;
- Schmidt, Georg;
- Westphal, Dominik;
- Haufe, Tobias;
- Federle, David;
- Rueckert, Daniel;
- Boeker, Martin;
- Becker, Matthias
Publication type:
Article
case report of RASA1-associated inherited lymphoedema with recurrent life-threatening lymphangitis.
Published in:
European Heart Journal Case Reports, 2021, v. 5, n. 11, p. 1, doi. 10.1093/ehjcr/ytab451
By:
- Westphal, Dominik S;
- Bergmann, Katharina;
- Martens, Eimo;
- Ibrahim, Tareq
Publication type:
Article

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