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	61.	CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. [electronic resource] by Wortmann, Saskia B Ziętkiewicz, Szymon Kousi, Maria Szklarczyk, Radek Haack, Tobias B Gersting, Søren W Muntau, Ania C Rakovic, Aleksandar Renkema, G Herma Rodenburg, Richard J Strom, Tim M Meitinger, Thomas Rubio-Gozalbo, M Estela Chrusciel, Elzbieta Distelmaier, Felix Golzio, Christelle Jansen, Joop H van Karnebeek, Clara Lillquist, Yolanda Lücke, Thomas Õunap, Katrin Zordania, Riina Yaplito-Lee, Joy van Bokhoven, Hans Spelbrink, Johannes N Vaz, Frédéric M Pras-Raves, Mia Ploski, Rafal Pronicka, Ewa Klein, Christine Willemsen, Michel A A P de Brouwer, Arjan P M Prokisch, Holger Katsanis, Nicholas Wevers, Ron A Producer: 20150409 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	62.	Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. [electronic resource] by van Karnebeek, Clara D M Ramos, Rúben J Wen, Xiao-Yan Tarailo-Graovac, Maja Gleeson, Joseph G Skrypnyk, Cristina Brand-Arzamendi, Koroboshka Karbassi, Farhad Issa, Mahmoud Y van der Lee, Robin Drögemöller, Britt I Koster, Janet Rousseau, Justine Campeau, Philippe M Wang, Youdong Cao, Feng Li, Meng Ruiter, Jos Ciapaite, Jolita Kluijtmans, Leo A J Willemsen, Michel A A P Jans, Judith J Ross, Colin J Wintjes, Liesbeth T Rodenburg, Richard J Huigen, Marleen C D G Jia, Zhengping Waterham, Hans R Wasserman, Wyeth W Wanders, Ronald J A Verhoeven-Duif, Nanda M Zaki, Maha S Wevers, Ron A Producer: 20200402 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	63.	Variants in CUL4B are associated with cerebral malformations. [electronic resource] by Vulto-van Silfhout, Anneke T Nakagawa, Tadashi Bahi-Buisson, Nadia Haas, Stefan A Hu, Hao Bienek, Melanie Vissers, Lisenka E L M Gilissen, Christian Tzschach, Andreas Busche, Andreas Müsebeck, Jörg Rump, Patrick Mathijssen, Inge B Avela, Kristiina Somer, Mirja Doagu, Fatma Philips, Anju K Rauch, Anita Baumer, Alessandra Voesenek, Krysta Poirier, Karine Vigneron, Jacqueline Amram, Daniel Odent, Sylvie Nawara, Magdalena Obersztyn, Ewa Lenart, Jacek Charzewska, Agnieszka Lebrun, Nicolas Fischer, Ute Nillesen, Willy M Yntema, Helger G Järvelä, Irma Ropers, Hans-Hilger de Vries, Bert B A Brunner, Han G van Bokhoven, Hans Raymond, F Lucy Willemsen, Michèl A A P Chelly, Jamel Xiong, Yue Barkovich, A James Kalscheuer, Vera M Kleefstra, Tjitske de Brouwer, Arjan P M Producer: 20150910 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	64.	Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. [electronic resource] by Verhagen, Mijke M M Last, James I Hogervorst, Frans B L Smeets, Dominique F C M Roeleveld, Nel Verheijen, Frans Catsman-Berrevoets, Coriene E Wulffraat, Nico M Cobben, Jan M Hiel, Johan Brunt, Ewout R Peeters, Els A J Gómez Garcia, Encarna B van der Knaap, Marjo S Lincke, Carsten R Laan, Laura A E M Tijssen, Marina A J van Rijn, Monique A Majoor-Krakauer, Danielle Visser, Marjan van 't Veer, Laura J Kleijer, Wim J van de Warrenburg, Bart P C Warris, Adilia de Groot, Imelda J M de Groot, Ronald Broeks, Annegien Preijers, Frank Kremer, Berry H P H Weemaes, Corry M R Taylor, Malcolm A M R van Deuren, Marcel Willemsen, Michèl A A P Producer: 20120608 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	65.	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. [electronic resource] by Hengel, Holger Bosso-Lefèvre, Célia Grady, George Szenker-Ravi, Emmanuelle Li, Hankun Pierce, Sarah Lebigot, Élise Tan, Thong-Teck Eio, Michelle Y Narayanan, Gunaseelan Utami, Kagistia Hana Yau, Monica Handal, Nader Deigendesch, Werner Keimer, Reinhard Marzouqa, Hiyam M Gunay-Aygun, Meral Muriello, Michael J Verhelst, Helene Weckhuysen, Sarah Mahida, Sonal Naidu, Sakkubai Thomas, Terrence G Lim, Jiin Ying Tan, Ee Shien Haye, Damien Willemsen, Michèl A A P Oegema, Renske Mitchell, Wendy G Pierson, Tyler Mark Andrews, Marisa V Willing, Marcia C Rodan, Lance H Barakat, Tahsin Stefan van Slegtenhorst, Marjon Gavrilova, Ralitza H Martinelli, Diego Gilboa, Tal Tamim, Abdullah M Hashem, Mais O AlSayed, Moeenaldeen D Abdulrahim, Maha M Al-Owain, Mohammed Awaji, Ali Mahmoud, Adel A H Faqeih, Eissa A Asmari, Ali Al Algain, Sulwan M Jad, Lamyaa A Aldhalaan, Hesham M Helbig, Ingo Koolen, David A Riess, Angelika Kraegeloh-Mann, Ingeborg Bauer, Peter Gulsuner, Suleyman Stamberger, Hannah Ng, Alvin Yu Jin Tang, Sha Tohari, Sumanty Keren, Boris Schultz-Rogers, Laura E Klee, Eric W Barresi, Sabina Tartaglia, Marco Mor-Shaked, Hagar Maddirevula, Sateesh Begtrup, Amber Telegrafi, Aida Pfundt, Rolph Schüle, Rebecca Ciruna, Brian Bonnard, Carine Pouladi, Mahmoud A Stewart, James C Claridge-Chang, Adam Lefeber, Dirk J Alkuraya, Fowzan S Mathuru, Ajay S Venkatesh, Byrappa Barycki, Joseph J Simpson, Melanie A Jamuar, Saumya S Schöls, Ludger Reversade, Bruno Producer: 20200413 In: Nature communications vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)