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	81.	Clinical delineation of the PACS1-related syndrome--Report on 19 patients. [electronic resource] by Schuurs-Hoeijmakers, Janneke H M Landsverk, Megan L Foulds, Nicola Kukolich, Mary K Gavrilova, Ralitza H Greville-Heygate, Stephanie Hanson-Kahn, Andrea Bernstein, Jonathan A Glass, Jennifer Chitayat, David Burrow, Thomas A Husami, Ammar Collins, Kathleen Wusik, Katie van der Aa, Nathalie Kooy, Frank Brown, Kate Tatton Gadzicki, Dorothea Kini, Usha Alvarez, Sara Fernández-Jaén, Alberto McGehee, Frank Selby, Katherine Tarailo-Graovac, Maja Van Allen, Margot van Karnebeek, Clara D M Stavropoulos, Dimitri J Marshall, Christian R Merico, Daniele Gregor, Anne Zweier, Christiane Hopkin, Robert J Chu, Yoyo Wing-Yiu Chung, Brian Hon-Yin de Vries, Bert B A Devriendt, Koenraad Hurles, Matthew E Brunner, Han G Producer: 20161213 In: American journal of medical genetics. Part A vol. 170 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development. [electronic resource] by van Karnebeek, Clara D M Bonafé, Luisa Wen, Xiao-Yan Tarailo-Graovac, Maja Balzano, Sara Royer-Bertrand, Beryl Ashikov, Angel Garavelli, Livia Mammi, Isabella Turolla, Licia Breen, Catherine Donnai, Dian Cormier, Valerie Heron, Delphine Nishimura, Gen Uchikawa, Shinichi Campos-Xavier, Belinda Rossi, Antonio Hennet, Thierry Brand-Arzamendi, Koroboshka Rozmus, Jacob Harshman, Keith Stevenson, Brian J Girardi, Enrico Superti-Furga, Giulio Dewan, Tammie Collingridge, Alissa Halparin, Jessie Ross, Colin J Van Allen, Margot I Rossi, Andrea Engelke, Udo F Kluijtmans, Leo A J van der Heeft, Ed Renkema, Herma de Brouwer, Arjan Huijben, Karin Zijlstra, Fokje Heisse, Thorben Boltje, Thomas Wasserman, Wyeth W Rivolta, Carlo Unger, Sheila Lefeber, Dirk J Wevers, Ron A Superti-Furga, Andrea Publication details: Nature genetics 05 2017 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	NANS-mediated synthesis of sialic acid is required for brain and skeletal development. [electronic resource] by van Karnebeek, Clara D M Bonafé, Luisa Wen, Xiao-Yan Tarailo-Graovac, Maja Balzano, Sara Royer-Bertrand, Beryl Ashikov, Angel Garavelli, Livia Mammi, Isabella Turolla, Licia Breen, Catherine Donnai, Dian Cormier-Daire, Valérie Heron, Delphine Nishimura, Gen Uchikawa, Shinichi Campos-Xavier, Belinda Rossi, Antonio Hennet, Thierry Brand-Arzamendi, Koroboshka Rozmus, Jacob Harshman, Keith Stevenson, Brian J Girardi, Enrico Superti-Furga, Giulio Dewan, Tammie Collingridge, Alissa Halparin, Jessie Ross, Colin J Van Allen, Margot I Rossi, Andrea Engelke, Udo F Kluijtmans, Leo A J van der Heeft, Ed Renkema, Herma de Brouwer, Arjan Huijben, Karin Zijlstra, Fokje Heise, Torben Boltje, Thomas Wasserman, Wyeth W Rivolta, Carlo Unger, Sheila Lefeber, Dirk J Wevers, Ron A Superti-Furga, Andrea Producer: 20170908 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in [electronic resource] by van Kuilenburg, André B P Tarailo-Graovac, Maja Richmond, Phillip A Drögemöller, Britt I Pouladi, Mahmoud A Leen, René Brand-Arzamendi, Koroboshka Dobritzsch, Doreen Dolzhenko, Egor Eberle, Michael A Hayward, Bruce Jones, Meaghan J Karbassi, Farhad Kobor, Michael S Koster, Janet Kumari, Daman Li, Meng MacIsaac, Julia McDonald, Cassandra Meijer, Judith Nguyen, Charlotte Rajan-Babu, Indhu-Shree Scherer, Stephen W Sim, Bernice Trost, Brett Tseng, Laura A Turkenburg, Marjolein van Vugt, Joke J F A Veldink, Jan H Walia, Jagdeep S Wang, Youdong van Weeghel, Michel Wright, Galen E B Xu, Xiaohong Yuen, Ryan K C Zhang, Jinqiu Ross, Colin J Wasserman, Wyeth W Geraghty, Michael T Santra, Saikat Wanders, Ronald J A Wen, Xiao-Yan Waterham, Hans R Usdin, Karen van Karnebeek, Clara D M Producer: 20190426 In: The New England journal of medicine vol. 380 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	A call for global action for rare diseases in Africa. [electronic resource] by Baynam, Gareth S Groft, Stephen van der Westhuizen, Francois H Gassman, Safiyya D du Plessis, Kelly Coles, Emily P Selebatso, Eda Selebatso, Moses Gaobinelwe, Boikobo Selebatso, Tebogo Joel, Dipesalema Llera, Virginia A Vorster, Barend C Wuebbels, Barbara Djoudalbaye, Benjamin Austin, Christopher P Kumuthini, Judit Forman, John Kaufmann, Petra Chipeta, James Gavhed, Désirée Larsson, Annika Stojiljkovic, Maja Nordgren, Ann Roldan, Emilio J A Taruscio, Domenica Wong-Rieger, Durhane Nowak, Kristen Bilkey, Gemma A Easteal, Simon Bowdin, Sarah Reichardt, Juergen K V Beltran, Sergi Kosaki, Kenjiro van Karnebeek, Clara D M Gong, Mengchun Shuyang, Zhang Mehrian-Shai, Ruty Adams, David R Puri, Ratna D Zhang, Feng Pachter, Nicholas Muenke, Maximilian Nellaker, Christoffer Gahl, William A Cederroth, Helene Broley, Stephanie Schoonen, Maryke Boycott, Kym M Posada, Manuel Producer: 20200408 In: Nature genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	86.	PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. [electronic resource] by Johnstone, Devon L Al-Shekaili, Hilal H Tarailo-Graovac, Maja Wolf, Nicole I Ivy, Autumn S Demarest, Scott Roussel, Yann Ciapaite, Jolita van Roermund, Carlo W T Kernohan, Kristin D Kosuta, Ceres Ban, Kevin Ito, Yoko McBride, Skye Al-Thihli, Khalid Abdelrahim, Rana A Koul, Roshan Al Futaisi, Amna Haaxma, Charlotte A Olson, Heather Sigurdardottir, Laufey Yr Arnold, Georgianne L Gerkes, Erica H Boon, M Heiner-Fokkema, M Rebecca Noble, Sandra Bosma, Marjolein Jans, Judith Koolen, David A Kamsteeg, Erik-Jan Drögemöller, Britt Ross, Colin J Majewski, Jacek Cho, Megan T Begtrup, Amber Wasserman, Wyeth W Bui, Tuan Brimble, Elise Violante, Sara Houten, Sander M Wevers, Ron A van Faassen, Martijn Kema, Ido P Lepage, Nathalie Lines, Matthew A Dyment, David A Wanders, Ronald J A Verhoeven-Duif, Nanda Ekker, Marc Boycott, Kym M Friedman, Jan M Pena, Izabella A van Karnebeek, Clara D M Producer: 20200106 In: Brain : a journal of neurology vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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