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1980, Di 1 ban., Zhongguo gu dian wen xue zuo pin xuan du, 7, 3, 168
Book
1984, Di 1 ban., Zhongguo gu dian wen xue zuo pin xuan du, 2, 2, 167
Book
1982, Di 1 ban., Zhongguo gu dian wen xue zuo pin xuan du, 2, 2, 167
Book
1987, Di 1 ban., Zhongguo gu dian wen xue zuo pin xuan du, 8, 8, 148
Book
湖南科技学院学报, ISSN 1673-2219, 2015, Volume 36, Issue 8, pp. 17 - 17
Journal Article
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 4, pp. 454 - 462
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, p. e0133624
Journal Article
Journal Article
Journal Article
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 190 - 190
Background: Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three... 
MEDICINE, RESEARCH & EXPERIMENTAL | PRPS1 | VARIANTS | Retinitis pigmentosa | SENSORINEURAL DEAFNESS | Non-random X-chromosome inactivation | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE | Neuropathy | OF-FUNCTION MUTATIONS | INACTIVATION | NUCLEOTIDE | DISEASE | GENETICS & HEREDITY | PERIPHERAL NEUROPATHY | SEQUENCING DATA | Phosphoribosyl pyrophosphate synthetase deficiency | ARTS SYNDROME | Peripheral Nervous System Diseases - diagnosis | Amino Acid Sequence | Hearing Loss - diagnosis | Protein Structure, Secondary | Humans | Molecular Sequence Data | Retinitis Pigmentosa - genetics | Male | Hearing Loss - complications | Mutation, Missense - genetics | Syndrome | Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis | Retinitis Pigmentosa - diagnosis | Hearing Loss - genetics | Phenotype | Purine-Pyrimidine Metabolism, Inborn Errors - complications | Retinitis Pigmentosa - complications | Pedigree | Ribose-Phosphate Pyrophosphokinase - genetics | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Ribose-Phosphate Pyrophosphokinase - deficiency | Female | Peripheral Nervous System Diseases - complications | Peripheral Nervous System Diseases - genetics | Usage | Gene mutations | Polyneuropathies | Exome sequencing | Genetic aspects | Diagnosis | Research | Identification and classification | Health aspects | Risk factors | Studies | Enzymes | Genotype & phenotype | Disease | Ataxia | Photoreceptors | Genomes | Mutation | Genetic testing | Hearing impairment | Deoxyribonucleic acid--DNA | Crystal structure
Journal Article
by Wolf, Nicole I and Vanderver, Adeline and van Spaendonk, Rosalina M. L and Schiffmann, Raphael and Brais, Bernard and Bugiani, Marianna and Sistermans, Erik and Catsman-Berrevoets, Coriene and Kros, Johan M and Pinto, Peo Soares and Pohl, Daniela and Tirupathi, Sandya and Strømme, Petter and de Grauw, Ton and Fribourg, Sébastien and Demos, Michelle and Pizzino, Amy and Naidu, Sakkubai and Guerrero, Kether and van der Knaap, Marjo S and Bernard, Geneviève and Benko, William and Boltshauser, Eugen and Bonkowsky, Joshua and Brouwer, Oebele F and Brozova, Klara and Champaigne, Neena L and Cimas, Icíar and Clough, Christopher and Cohen, Ana and Collins, Abigail and Corenblum, Bernard and Dai, Lanlan and Dolan, Gail and Faletra, Flavio and Fernandez, Raymond and Eugenia Garcia Garcia, Maria and Gasparini, Paolo and Gburek-Augustat, Janina and Gibson, William and Gonzalez Moron, Dolores and Guo, Yiran and Hakonarson, Hakon and Hamati, Aline and Harms, Nils and Harting, Inga and Hertzberg, Christoph and Hill, Alan and Hobson, Grace and Innes, Micheil and Kauffman, Marcelo and Keating, Brendan J and Kluger, Gerhard and Kolditz, Petra and Kotzaeridou, Urania and Krägeloh-Mann, Ingeborg and La Piana, Roberta and Liu, Xuanzhu and Marques Lourenço, Charles and Martos-Moreno, Gabriel Á and Matalon, Reuben and Mazzeo, Robert and McClintock, William and McKenzie, Fiona and Mierzewska, Hannah and Mohnish, Suri and Muschke, Petra and Nickel, Miriam and Orcesi, Simona and Padiath, Quasar S and Patzer, Steffi and Peo, Helio and Pineda Marfa, Mercedes and Plecko, Barbara and Poll-Thé, Bwee-Tien and Potic, Ana and Rating, Dietz and Rankin, Julia and Raymond, Gerald and Ronan, Anne and Rosendahl Østergaard, John and Rossignol, Elsa and Sanchez-Carpintero, Rocio and Schossig, Anna and Sébire, Guillaume and Senbil, Nesrin and Swisher, Charles N and Synofzik, Matthis and Sønderberg Roos, Laura K and Stevens, Cathy and Sylvain, Michel and Tibussek, Daniel and Tonduti, Davide and Tran, Luan and van Hove, Johan L. K and Vázquez López, Maria and Wang, Fengxiang and Wang, Jun and Wasling, Pontus and Wassmer, Evangeline and ... and 4H Res Grp and 4H Research Group and On behalf of the 4H Research Group
Neurology, ISSN 0028-3878, 2014, Volume 83, Issue 21, pp. 1898 - 1905
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2014, Volume 164, Issue 5, pp. 1175 - 1179
Journal Article
by Cassatella, Daniele and Cassatella, Daniele and Howard, Sasha R and Howard, Sasha R and Acierno, James S and Acierno, James S and Xu, Cheng and Xu, Cheng and Papadakis, Georgios E and Papadakis, Georgios E and Santoni, Federico A and Santoni, Federico A and Dwyer, Andrew A and Dwyer, Andrew A and Santini, Sara and Santini, Sara and Sykiotis, Gerasimos P and Sykiotis, Gerasimos P and Chambion, Caroline and Chambion, Caroline and Meylan, Jenny and Meylan, Jenny and Marino, Laura and Marino, Laura and Favre, Lucie and Favre, Lucie and Li, Jiankang and Li, Jiankang and Liu, Xuanzhu and Liu, Xuanzhu and Zhang, Jianguo and Zhang, Jianguo and Bouloux, Pierre-Marc and Bouloux, Pierre-Marc and Geyter, Christian De and De Geyter, Christian and De Paepe, Anne and Paepe, Anne De and Dhillo, Waljit S and Dhillo, Waljit S and Ferrara, Jean-Marc and Ferrara, Jean-Marc and Hauschild, Michael and Hauschild, Michael and Lang-Muritano, Mariarosaria and Lang-Muritano, Mariarosaria and Lemke, Johannes R and Lemke, Johannes R and Flück, Christa and Flück, Christa and Nemeth, Attila and Nemeth, Attila and Phan-Hug, Franziska and Phan-Hug, Franziska and Pignatelli, Duarte and Pignatelli, Duarte and Popovic, Vera and Popovic, Vera and Pekic, Sandra and Pekic, Sandra and Quinton, Richard and Quinton, Richard and Szinnai, Gabor and Szinnai, Gabor and L'Allemand, Dagmar and l'Allemand, Dagmar and Konrad, Daniel and Konrad, Daniel and Sharif, Saba and Sharif, Saba and Iyidir, Özlem Turhan and Iyidir, Özlem Turhan and Stevenson, Brian J and Stevenson, Brian J and Yang, Huanming and Yang, Huanming and Dunkel, Leo and Dunkel, Leo and Pitteloud, Nelly and Pitteloud, Nelly
European journal of endocrinology, ISSN 0804-4643, 04/2018, Volume 178, Issue 4, pp. 377 - 388
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