1. A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. Issue 5 (2nd February 2017) Authors: Vill, Katharina; Müller‐Felber, Wolfgang; Alhaddad, Bader; Strom, Tim M.; Teusch, Veronika; Weigand, Heike; Blaschek, Astrid; Meitinger, Thomas; Haack, Tobias B. Other Names: Silber Michael H. guestEditor.; Iranzo Alex guestEditor. Journal: Movement disorders Issue: Volume 32:Issue 5(2017) Page Start: 797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Issue 1 (1st December 2020) Authors: Brugger, Melanie; Becker‐Dettling, Fiona; Brunet, Theresa; Strom, Tim; Meitinger, Thomas; Lurz, Eberhard; Borggraefe, Ingo; Wagner, Matias Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 1(2021) Page Start: 278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Issue 1 (1st December 2020) Authors: Brugger, Melanie; Becker‐Dettling, Fiona; Brunet, Theresa; Strom, Tim; Meitinger, Thomas; Lurz, Eberhard; Borggraefe, Ingo; Wagner, Matias Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 1(2021) Page Start: 278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. (10th April 2019) Authors: Sung, Yun Ju; de las Fuentes, Lisa; Winkler, Thomas W; Chasman, Daniel I; Bentley, Amy R; Kraja, Aldi T; Ntalla, Ioanna; Warren, Helen R; Guo, Xiuqing; Schwander, Karen; Manning, Alisa K; Brown, Michael R; Aschard, Hugues; Feitosa, Mary F; Franceschini, Nora; Lu, Yingchang; Cheng, Ching-Yu; Sim, ... Journal: Human molecular genetics Issue: Volume 28:Number 15(2019) Page Start: 2615 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. Issue 9 (1st September 2000) Authors: Scharfe, Curt; Hauschild, Michael; Klopstock, Thomas; Janssen, Antoon J M; Heidemann, Peter H; Meitinger, Thomas; Jaksch, Michaela Journal: Journal of medical genetics Issue: Volume 37:Issue 9(2000) Page Start: 669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing. (August 2019) Authors: Krenn, Martin; Milenkovic, Ivan; Eckstein, Gertrud; Zimprich, Fritz; Meitinger, Thomas; Foki, Thomas; Wagner, Matias Journal: Neurology Issue: Volume 5:Number 4(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. Issue 1 (1st January 2000) Authors: Lichtner, Peter; König, Rainer; Hasegawa, Tomonobu; Van Esch, Hilde; Meitinger, Thomas; Schuffenhauer, Simone Journal: Journal of medical genetics Issue: Volume 37:Issue 1(2000) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. Issue 6 (23rd April 2013) Authors: Salem, Nabeel J.M.; Hempel, Maja; Heiliger, Katrin‐Janine; Hosie, Stuart; Meitinger, Thomas; Oexle, Konrad Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2. (June 2015) Authors: Kolder, Iris C.R.M.; Tanck, Michael W.T.; Postema, Pieter G.; Barc, Julien; Sinner, Moritz F.; Zumhagen, Sven; Husemann, Anja; Stallmeyer, Birgit; Koopmann, Tamara T.; Hofman, Nynke; Pfeufer, Arne; Lichtner, Peter; Meitinger, Thomas; Beckmann, Britt M.; Myerburg, Robert J.; Bishopric, Nanette H.;... Journal: Circulation Issue: Volume 8:Number 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Association of alcohol consumption with allergic disease and asthma: a multi‐centre Mendelian randomization analysis*. (30th October 2018) Authors: Skaaby, Tea; Kilpeläinen, Tuomas O.; Taylor, Amy E.; Mahendran, Yuvaraj; Wong, Andrew; Ahluwalia, Tarunveer S.; Paternoster, Lavinia; Trompet, Stella; Stott, David J.; Flexeder, Claudia; Zhou, Ang; Brusselle, Guy; Sajjad, Ayesha; Lahousse, Lies; Tiemeier, Henning; Have, Christian Theil; Thuesen, ... Journal: Addiction Issue: Volume 114:Number 2(2019) Page Start: 216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗