21. MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy. Issue 1 (25th October 2018) Authors: Baumann, Matthias; Schreiber, Herbert; Schlotter‐Weigel, Beate; Löscher, Wolfgang N.; Stucka, Rolf; Karall, Daniela; Strom, Tim M.; Bauer, Peter; Krabichler, Birgit; Fauth, Christine; Glaeser, Dieter; Senderek, Jan Journal: Clinical genetics Issue: Volume 95:Issue 1(2019) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast. Issue 11 (17th September 2013) Authors: Baruffini, Enrico; Dallabona, Cristina; Invernizzi, Federica; Yarham, John W.; Melchionda, Laura; Blakely, Emma L.; Lamantea, Eleonora; Donnini, Claudia; Santra, Saikat; Vijayaraghavan, Suresh; Roper, Helen P.; Burlina, Alberto; Kopajtich, Robert; Walther, Anett; Strom, Tim M.; Haack, Tobias B.; ... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast. Issue 11 (17th September 2013) Authors: Baruffini, Enrico; Dallabona, Cristina; Invernizzi, Federica; Yarham, John W.; Melchionda, Laura; Blakely, Emma L.; Lamantea, Eleonora; Donnini, Claudia; Santra, Saikat; Vijayaraghavan, Suresh; Roper, Helen P.; Burlina, Alberto; Kopajtich, Robert; Walther, Anett; Strom, Tim M.; Haack, Tobias B.; ... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2. Issue 9 (7th July 2016) Authors: Bögershausen, Nina; Gatinois, Vincent; Riehmer, Vera; Kayserili, Hülya; Becker, Jutta; Thoenes, Michaela; Simsek‐Kiper, Pelin Özlem; Barat‐Houari, Mouna; Elcioglu, Nursel H.; Wieczorek, Dagmar; Tinschert, Sigrid; Sarrabay, Guillaume; Strom, Tim M.; Fabre, Aurélie; Baynam, Gareth; Sanchez, Elodie;... Journal: Human mutation Issue: Volume 37:Issue 9(2016) Page Start: 847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. Nine newly identified individuals refine the phenotype associated with MYT1L mutations. Issue 5 (17th February 2020) Authors: Windheuser, Isabelle C.; Becker, Jessica; Cremer, Kirsten; Hundertmark, Hela; Yates, Laura M.; Mangold, Elisabeth; Peters, Sophia; Degenhardt, Franziska; Ludwig, Kerstin U.; Zink, Alexander M.; Lessel, Davor; Bierhals, Tatjana; Herget, Theresia; Johannsen, Jessika; Denecke, Jonas; Wohlleber, Eva;... Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 1021 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia. (August 2020) Authors: Zech, Michael; Brunet, Theresa; Škorvánek, Matej; Blaschek, Astrid; Vill, Katharina; Hanker, Britta; Hüning, Irina; Haň, Vladimír; Došekova, Petra; Gdovinová, Zuzana; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Růžička, Evžen; Kamsteeg, Erik-Jan; van der Smagt, Jasper J.; Wagner, Matias; J... Journal: Parkinsonism & related disorders Issue: Volume 77(2020) Page Start: 70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
27. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. Issue 1 (5th November 2015) Authors: Staufner, Christian; Haack, Tobias B.; Köpke, Marlies G.; Straub, Beate K.; Kölker, Stefan; Thiel, Christian; Freisinger, Peter; Baric, Ivo; McKiernan, Patrick J.; Dikow, Nicola; Harting, Inga; Beisse, Flemming; Burgard, Peter; Kotzaeridou, Urania; Lenz, Dominic; Kühr, Joachim; Himbert, Urban; Ta... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 1(2016) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Issue 8 (14th June 2018) Authors: Kumar, Raman; Gardner, Alison; Homan, Claire C.; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Lüdecke, Hermann‐Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E.; Mihalic Mosher, Theresa; Gille... Journal: Human mutation Issue: Volume 39:Issue 8(2018) Page Start: 1126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities. (29th October 2017) Authors: Zech, Michael; Poustka, Katharina; Boesch, Sylvia; Berutti, Riccardo; Strom, Tim M.; Grisold, Wolfgang; Poewe, Werner; Winkelmann, Juliane Other Names: Yapijakis Christos Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
30. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Issue 11 (17th August 2017) Authors: Wambach, Jennifer A.; Stettner, Georg M.; Haack, Tobias B.; Writzl, Karin; Škofljanec, Andreja; Maver, Aleš; Munell, Francina; Ossowski, Stephan; Bosio, Mattia; Wegner, Daniel J.; Shinawi, Marwan; Baldridge, Dustin; Alhaddad, Bader; Strom, Tim M.; Grange, Dorothy K.; Wilichowski, Ekkehard; Troxel... Journal: Human mutation Issue: Volume 38:Issue 11(2017) Page Start: 1477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗