1. 'Kinesinopathies': emerging role of the kinesin family member genes in birth defects. Issue 12 (19th May 2020) Authors: Kalantari, Silvia; Filges, Isabel Journal: Journal of medical genetics Issue: Volume 57:Issue 12(2020) Page Start: 797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel homozygous splice‐site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development. (13th June 2017) Authors: Meier, Nicole; Bruder, Elisabeth; Filges, Isabel Journal: Prenatal diagnosis Issue: Volume 37:Number 7(2017) Page Start: 720 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?. Issue 1 (December 2016) Authors: Strunk, Daniela; Weber, Peter; Röthlisberger, Benno; Filges, Isabel Journal: Molecular cytogenetics Issue: Volume 9:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication. Issue 8 (28th May 2014) Authors: Filges, Isabel; Sparagana, Steven; Sargent, Michael; Selby, Kathryn; Schlade‐Bartusiak, Kamilla; Lueder, Gregg T.; Robichaux‐Viehoever, Amy; Schlaggar, Bradley L.; Shimony, Joshua S.; Shinawi, Marwan Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 2003 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes. (22nd August 2014) Authors: Filges, Isabel; Friedman, Jan M.; Chitty, Lyn S.; Bianchi, Diana W. Journal: Prenatal diagnosis Issue: Volume 35:Number 10(2015:Oct.) Page Start: 1005 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the KIF4A‐associated phenotype. Issue 12 (3rd August 2021) Authors: Kalantari, Silvia; Carlston, Colleen; Alsaleh, Norah; Abdel‐Salam, Ghada M. H.; Alkuraya, Fowzan; Kato, Mitsuhiro; Matsumoto, Naomichi; Miyatake, Satoko; Yamamoto, Tatsuya; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Chassaing, Nicolas; Vincent‐Delorme, Catherine; Kang‐Bellin, Anjeung; McWalter, Kirst... Journal: American journal of medical genetics Issue: Volume 185:Issue 12(2021) Page Start: 3728 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly. Issue 4 (26th February 2020) Authors: Meier, Nicole; Bruder, Elisabeth; Miny, Peter; Tercanli, Sevgi; Filges, Isabel Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 4(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis. (7th January 2013) Authors: Filges, Isabel; Hall, Judith G. Journal: Prenatal diagnosis Issue: Volume 33:Number 1(2013:Jan.) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. Issue 3 (18th July 2019) Authors: Filges, Isabel; Tercanli, Sevgi; Hall, Judith G. Other Names: Dahan‐Oliel Noémi guestEditor.; Hall Judith guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 3(2019) Page Start: 327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?. Issue 1 (December 2015) Authors: Ehret, Julia; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Zimmermann, Johannes; Wohlleber, Eva; Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Mangold, Elisabeth; Bevot, Andrea; Schön, Stefanie; Heilmann-Heimbach, Stefanie; Dennert, Nicola; Mathieu-Dramard, Michèle; Lacaze, Elodie; Plessis,... Journal: Molecular cytogenetics Issue: Volume 8:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗