1. Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. (19th July 2017) Authors: Feichtinger, René G.; Brunner-Krainz, Michaela; Alhaddad, Bader; Wortmann, Saskia B.; Kovacs-Nagy, Reka; Stojakovic, Tatjana; Erwa, Wolfgang; Resch, Bernhard; Windischhofer, Werner; Verheyen, Sarah; Uhrig, Sabine; Windpassinger, Christian; Locker, Felix; Makowski, Christine; Strom, Tim M.; Meitin... Other Names: Hüttemann Maik Academic Editor. Journal: Oxidative medicine and cellular longevity Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. (13th March 2014) Authors: Bernkopf, Marie; Webersinke, Gerald; Tongsook, Chanakan; Koyani, Chintan N.; Rafiq, Muhammad A.; Ayaz, Muhammad; Müller, Doris; Enzinger, Christian; Aslam, Muhammad; Naeem, Farooq; Schmidt, Kurt; Gruber, Karl; Speicher, Michael R.; Malle, Ernst; Macheroux, Peter; Ayub, Muhammad; Vincent, John B.;... Journal: Human molecular genetics Issue: Volume 23:Number 15(2014:Aug. 01) Page Start: 4015 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene. Issue 8 (11th July 2019) Authors: Muzammal, Muhammad; Zubair, Muhammad; Bierbaumer, Sophie; Blatterer, Jasmin; Graf, Ricarda; Gul, Aisha; Abbas, Safdar; Badar, Muhammad; Abbasi, Ansar Ahmad; Khan, Muzammil Ahmad; Windpassinger, Christian Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 8(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death. (April 2016) Authors: Xue, Yuan; Schoser, Benedikt; Rao, Aliz R.; Quadrelli, Roberto; Vaglio, Alicia; Rupp, Verena; Beichler, Christine; Nelson, Stanley F.; Schapacher-Tilp, Gudrun; Windpassinger, Christian; Wilcox, William R. Journal: Circulation Issue: Volume 9:Number 2(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H. (1st February 2021) Authors: Abbas, Safdar; Brugger, Beatrice; Zubair, Muhammad; Gul, Sana; Blatterer, Jasmin; Wenninger, Julian; Rehman, Khurram; Tatrai, Benjamin; Khan, Muzammil Ahmad; Windpassinger, Christian Journal: Neurological research Issue: Volume 43:Number 2(2021) Page Start: 133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. General movements in genetic disorders: A first look into Cornelia de Lange syndrome. (August 2015) Authors: Marschik, Peter B.; Soloveichick, Marina; Windpassinger, Christian; Einspieler, Christa Journal: Developmental neurorehabilitation Issue: Volume 18:Number 4(2015:Aug.) Page Start: 280 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. Issue 1 (December 2016) Authors: Khan, Muzammil; Mohan, Sumitra; Zubair, Muhammad; Windpassinger, Christian Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports. Issue 35 (September 2017) Authors: Al Kaissi, Ali; Windpassinger, Christian; Chehida, Farid Ben; Ghachem, Maher Ben; Nassib, Nabil M.; Kenis, Vladimir; Melchenko, Eugene; Morenko, Ekatrina; Ryabykh, Sergey; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit Other Names: Zhu. Xiaolin section editor. Journal: Medicine Issue: Volume 96:Issue 35(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family. Issue 2 (10th January 2020) Authors: Ali, Muhammad Z.; Blatterer, Jasmin; Khan, Muzammil A.; Schaflinger, Erich; Petek, Erwin; Ahmad, Safeer; Khan, Ejazullah; Windpassinger, Christian Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 2(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL. (31st October 2018) Authors: Bengesser, Susanne A.; Reininghaus, Eva Z.; Lackner, Nina; Birner, Armin; Fellendorf, Frederike T.; Platzer, Martina; Kainzbauer, Nora; Tropper, Bernhard; Hörmanseder, Christa; Queissner, Robert; Kapfhammer, Hans-Peter; Wallner-Liebmann, Sandra J.; Fuchs, Robert; Petek, Erwin; Windpassinger, Chri... Journal: World journal of biological psychiatry Issue: Volume 19(2018)Supplement 2 Page Start: S21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗