1. A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. Issue 12 (3rd October 2013) Authors: Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wie... Journal: Journal of medical genetics Issue: Volume 50:Issue 12(2013) Page Start: 838 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Array‐based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions. Issue 1 (17th December 2015) Authors: Krutzke, Sophia K.; Engels, Hartmut; Hofmann, Andrea; Schumann, Madita M.; Cremer, Kirsten; Zink, Alexander M.; Hilger, Alina; Ludwig, Michael; Gembruch, Ulrich; Reutter, Heiko; Merz, Waltraut M. Journal: Birth defects research Issue: Volume 106:Issue 1(2016) Page Start: 16 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene. Issue 7 (6th May 2014) Authors: Cooper, Paige E.; Reutter, Heiko; Woelfle, Joachim; Engels, Hartmut; Grange, Dorothy K.; van Haaften, Gijs; van Bon, Bregje W.; Hoischen, Alexander; Nichols, Colin G. Journal: Human mutation Issue: Volume 35:Issue 7(2014:Jul.) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital diaphragmatic hernia in a case of Cat eye syndrome. Issue 9 (23rd July 2018) Authors: Alsat, Ebru Aileen; Reutter, Heiko; Bagci, Soyhan; Kipfmueller, Florian; Engels, Hartmut; Raff, Ruth; Mangold, Elisabeth; Gembruch, Ulrich; Geipel, Annegret; Müller, Andreas; Schaible, Thomas Journal: Clinical case reports Issue: Volume 6:Issue 9(2018) Page Start: 1786 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Issue 2 (14th November 2016) Authors: Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K.; Lüdecke, Hermann‐Josef; Suri, Mohnish; Carignani, Giulia; Renieri, Alessandra; Kukuk, Guido M.; Wieland, Thomas; Andrieux, Joris; Strom, Tim M.; Wieczorek, Dagmar; Dieux‐Coëslier,... Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. (13th March 2015) Authors: Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C.; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohd... Journal: Annals of clinical and translational neurology Issue: Volume 2:Number 5(2015:May) Page Start: 492 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Issue 6 (30th September 2014) Authors: Horpaopan, Sukanya; Spier, Isabel; Zink, Alexander M.; Altmüller, Janine; Holzapfel, Stefanie; Laner, Andreas; Vogt, Stefanie; Uhlhaas, Siegfried; Heilmann, Stefanie; Stienen, Dietlinde; Pasternack, Sandra M.; Keppler, Kathleen; Adam, Ronja; Kayser, Katrin; Moebus, Susanne; Draaken, Markus; Degen... Journal: International journal of cancer Issue: Volume 136:Issue 6(2015:Mar. 15) Page Start: E578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum. Issue 7 (7th June 2019) Authors: Park, Joohyun; Koko, Mahmoud; Hedrich, Ulrike B. S.; Hermann, Andreas; Cremer, Kirsten; Haberlandt, Edda; Grimmel, Mona; Alhaddad, Bader; Beck‐Woedl, Stefanie; Harrer, Merle; Karall, Daniela; Kingelhoefer, Lisa; Tzschach, Andreas; Matthies, Lars C.; Strom, Tim M.; Ringelstein, Erich Bernd; Sturm,... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 7(2019) Page Start: 1319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Male infant with paternal uniparental diploidy mosaicism and a 46, XX/46, XY karyotype. Issue 11 (1st August 2019) Authors: Spier, Isabel; Engels, Hartmut; Stutte, Sonja; Reutter, Heiko; Bartels, Enrika; Matos Meder, Sarah; Begemann, Matthias; Mangold, Elisabeth; Eggermann, Thomas Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2252 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) ↗