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. 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) ↗
3. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center. Issue 1 (1st March 2021) Authors: Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpál, Ján; Havránková, Petra; Pavele... Journal: Clinical genetics Issue: Volume 100:Issue 1(2021) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy. (June 2020) Authors: Perrier, Stefanie; Gauquelin, Laurence; Fallet-Bianco, Catherine; Dishop, Megan K.; Michell-Robinson, Mackenzie A.; Tran, Luan T.; Guerrero, Kether; Darbelli, Lama; Srour, Myriam; Petrecca, Kevin; Renaud, Deborah L.; Saito, Michael; Cohen, Seth; Leiz, Steffen; Alhaddad, Bader; Haack, Tobias B.; T... Journal: Neurology Issue: Volume 6:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome. Issue 7 (7th May 2018) Authors: Alsahli, Saud; Arold, Stefan T.; Alfares, Ahmed; Alhaddad, Bader; Al Balwi, Mohammed; Kamsteeg, Erik‐Jan; Al‐Twaijri, Waleed; Alfadhel, Majid Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1602 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum. (October 2020) Authors: Neuhofer, Christiane M.; Catarino, Claudia B.; Schmidt, Heinrich; Seelos, Klaus; Alhaddad, Bader; Haack, Tobias B.; Klopstock, Thomas Journal: Neurology Issue: Volume 6:Number 5(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Issue 3 (15th February 2017) Authors: Wortmann, Saskia B.; Chen, Margaret A.; Colombo, Roberto; Pontoglio, Alessandro; Alhaddad, Bader; Botto, Lorenzo D.; Yuzyuk, Tatiana; Coughlin, Curtis R.; Descartes, Maria; Grűnewald, Stephanie; Maranda, Bruno; Mills, Philippa B.; Pitt, James; Potente, Catherine; Rodenburg, Richard; Kluijtmans, L... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 423 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular and clinical spectra of FBXL4 deficiency. Issue 12 (6th October 2017) Authors: El‐Hattab, Ayman W.; Dai, Hongzheng; Almannai, Mohammed; Wang, Julia; Faqeih, Eissa A.; Al Asmari, Ali; Saleh, Mohammed A. M.; Elamin, Mohammed A. O.; Alfadhel, Majid; Alkuraya, Fowzan S.; Hashem, Mais; Aldosary, Mazhor S.; Almass, Rawan; Almutairi, Faten B.; Alsagob, Maysoon; Al‐Owain, Mohammed;... Journal: Human mutation Issue: Volume 38:Issue 12(2017) Page Start: 1649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020) Authors: Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,... Journal: Lancet neurology Issue: Volume 19:Issue 11(2020) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗