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- [1] Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patientBLOOD, 2014, 124 (17) : 2750 - 2751Liu, Gang论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Natl Ctr Nanosci & Technol, Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R China Chinese Acad Sci, Natl Ctr Nanosci & Technol, Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R ChinaGuo, Shanshan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Natl Ctr Nanosci & Technol, Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R China Chinese Acad Sci, Natl Ctr Nanosci & Technol, Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R ChinaAnderson, Gregory J.论文数: 0 引用数: 0 h-index: 0机构: Queensland Inst Med Res, Berghofer Med Res Inst, Iron Metab Lab, Brisbane, Qld 4006, Australia Chinese Acad Sci, Natl Ctr Nanosci & Technol, Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R ChinaCamaschella, Clara论文数: 0 引用数: 0 h-index: 0机构: Univ Vita Salute San Raffaele, Milan, Italy Ist Sci San Raffaele, Ist Ricovero & Cura Carattere Sci, I-20132 Milan, Italy Chinese Acad Sci, Natl Ctr Nanosci & Technol, Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R ChinaHan, Bing论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Hematol, Beijing 100730, Peoples R China Peking Union Med Coll, Beijing 100021, Peoples R China Chinese Acad Sci, Natl Ctr Nanosci & Technol, Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R ChinaNie, Guangjun论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Natl Ctr Nanosci & Technol, Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R China Chinese Acad Sci, Natl Ctr Nanosci & Technol, Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R China
- [2] Two new mutations in the GLRX5 gene cause sideroblastic anemiaBLOOD CELLS MOLECULES AND DISEASES, 2023, 102Arias, Andres Felipe Melo论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, Spain Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, SpainSerrat, Silvia Escribano论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, Spain Calle Prof Martin Lagos S-N, Madrid 28040, Spain Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, SpainNieto, Jorge Martinez论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, Spain Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, SpainSalazar, Fiorella Medina论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, Spain Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, SpainGradilla, Paloma Ropero论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, Spain Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, SpainCuesta, Celina Benavente论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, Spain Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, SpainFernandez, Fernando Ataulfo Gonzalez论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, Spain Hosp Clin San Carlos, Dept Hematol & Hemotherapy, IdiSSC, Madrid, Spain
- [3] FUNCTIONAL CHARACTERIZATION AND EVALUATION OF A THIRD CASE OF SIDEROBLASTIC ANEMIA WITH BIALLELIC MUTATIONS OF GLRX5AMERICAN JOURNAL OF HEMATOLOGY, 2016, 91 (03) : E56 - E56Daher, Raed论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, FranceMansouri, Abdellah论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, FranceBayart, Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, FranceMartelli, Alain论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, FranceCallebaut, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, FranceSunnaram, Ly论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, FranceGoustille, Julien论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, FranceOudin, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, FranceJouanolle, Anne Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, FranceBeaumont, Carole论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Kannengiesser, Caroline论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France Univ Paris Diderot, Hop Bichat, AP HP, INSERM,U1149,Dept Genet,Lab Excellence GR Ex, 16 Rue Henri Huchard, F-75018 Paris, France
- [4] GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemiaMOLECULAR GENETICS AND METABOLISM, 2019, 128 (03) : 342 - 351Daher, Raed论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1149, CRI, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, DHU UNITY, Site Bichat, Paris, France Lab Excellence GR Ex, Paris, France Hop Louis Mourier, AP HP, CFP, Colombes, France Hop Bichat Claude Bernard, AP HP, Dept Genet, Paris, France INSERM, U1149, CRI, Paris, FranceMansouri, Abdellah论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1149, CRI, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, DHU UNITY, Site Bichat, Paris, France INSERM, U1149, CRI, Paris, FranceMartelli, Alain论文数: 0 引用数: 0 h-index: 0机构: Dept Translat Med & Neurogenet, Illkirch Graffenstaden, France Pfizer Inc, Rare Dis Res Unit, Cambridge, MA USA INSERM, U1149, CRI, Paris, FranceBayart, Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Hop Sud, Dept Pediat Hematol, Rennes, France INSERM, U1149, CRI, Paris, FranceManceau, Hana论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1149, CRI, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, DHU UNITY, Site Bichat, Paris, France Lab Excellence GR Ex, Paris, France INSERM, U1149, CRI, Paris, France论文数: 引用数: h-index:机构:Moulouel, Boualem论文数: 0 引用数: 0 h-index: 0机构: Hop Louis Mourier, AP HP, CFP, Colombes, France INSERM, U1149, CRI, Paris, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Kannengiesser, Caroline论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1149, CRI, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, DHU UNITY, Site Bichat, Paris, France Lab Excellence GR Ex, Paris, France Hop Bichat Claude Bernard, AP HP, Dept Genet, Paris, France INSERM, U1149, CRI, Paris, France论文数: 引用数: h-index:机构:
- [5] Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5BRAIN, 2014, 137 : 366 - 379Baker, Peter R., II论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USAFriederich, Marisa W.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USASwanson, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USAShaikh, Tamim论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USABhattacharya, Kaustuv论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Genet Metab Disorders Serv, Sydney, NSW 2145, Australia Univ Colorado, Dept Pediat, Aurora, CO 80045 USAScharer, Gunter H.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USAAicher, Joseph论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USACreadon-Swindell, Geralyn论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USAGeiger, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USAMacLean, Kenneth N.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USALee, Wang-Tso论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10048, Taiwan Univ Colorado, Dept Pediat, Aurora, CO 80045 USADeshpande, Charu论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, Dept Clin Genet, London SE1 7RT, England Univ Colorado, Dept Pediat, Aurora, CO 80045 USAFreckmann, Mary-Louise论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Dept Clin Genet, Sydney, NSW 2031, Australia Univ Colorado, Dept Pediat, Aurora, CO 80045 USAShih, Ling-Yu论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Dent New Jersey, Inst Genom Med, New Jersey Med Sch, Newark, NJ 07901 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USAWasserstein, Melissa论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, New York, NY 10029 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USARasmussen, Malene B.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Ctr Inherited Metab Dis, DK-1200 Copenhagen, Denmark Univ Colorado, Dept Pediat, Aurora, CO 80045 USALund, Allan M.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Ctr Inherited Metab Dis, DK-1200 Copenhagen, Denmark Univ Colorado, Dept Pediat, Aurora, CO 80045 USAProcopis, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Discipline Pediat, Westmead, NSW 2145, Australia Univ Colorado, Dept Pediat, Aurora, CO 80045 USACameron, Jessie M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Res Program, Toronto, ON M5G 1X8, Canada Univ Colorado, Dept Pediat, Aurora, CO 80045 USARobinson, Brian H.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Res Program, Toronto, ON M5G 1X8, Canada Univ Colorado, Dept Pediat, Aurora, CO 80045 USABrown, Garry K.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Biochem, Genet Unit, Oxford OX1 3QU, England Univ Colorado, Dept Pediat, Aurora, CO 80045 USABrown, Ruth M.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Biochem, Genet Unit, Oxford OX1 3QU, England Univ Colorado, Dept Pediat, Aurora, CO 80045 USACompton, Alison G.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic 3052, Australia Univ Colorado, Dept Pediat, Aurora, CO 80045 USADieckmann, Carol L.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Mol & Cellular Biol, Tucson, AZ 85721 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USACollard, Renata论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USACoughlin, Curtis R., II论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USASpector, Elaine论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USAWempe, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Pharm, Dept Pharmaceut Sci, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USAVan Hove, Johan L. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Aurora, CO 80045 USA
- [6] Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the GLRX5 geneNEUROLOGY ASIA, 2020, 25 (04) : 623 - 626Cakar, Nafiye Emel论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Okmeydani Training & Res Hosp, Dept Pediat Metab, Istanbul, Turkey Univ Hlth Sci, Okmeydani Training & Res Hosp, Dept Pediat Metab, Istanbul, TurkeySeyhan, Serhat论文数: 0 引用数: 0 h-index: 0机构: Medipol Univ, Dept Med Genet, Istanbul, Turkey Univ Hlth Sci, Okmeydani Training & Res Hosp, Dept Pediat Metab, Istanbul, Turkey
- [7] Sideroblastic anemia: functional study of two novel missense mutations in ALAS2MOLECULAR GENETICS & GENOMIC MEDICINE, 2016, 4 (03): : 273 - 282Mendez, Manuel论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Inst Invest, Madrid, Spain Hosp 12 Octubre, Inst Invest, Madrid, SpainMoreno-Carralero, Maria-Isabel论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Inst Invest, Madrid, Spain Hosp 12 Octubre, Inst Invest, Madrid, SpainMorado-Arias, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp La Paz, Dept Hematol, Madrid, Spain Hosp 12 Octubre, Inst Invest, Madrid, SpainFernandez-Jimenez, Maria-Cristina论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Toledo, Dept Hematol, Toledo, Spain Hosp 12 Octubre, Inst Invest, Madrid, Spainde la Iglesia Inigo, Silvia论文数: 0 引用数: 0 h-index: 0机构: Hosp Doctor Negrin, Dept Hematol, Madrid, Spain Hosp 12 Octubre, Inst Invest, Madrid, SpainMoran-Jimenez, Maria-Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Inst Invest, Madrid, Spain Hosp 12 Octubre, Inst Invest, Madrid, Spain
- [8] Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan diseaseBRAIN & DEVELOPMENT, 2010, 32 (10): : 879 - 882Zhang, Huiwen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Xinhua Hosp,Dept Pediat Endocrinol & Genet Metab, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Xinhua Hosp,Dept Pediat Endocrinol & Genet Metab, Shanghai 200092, Peoples R ChinaLiu, Xiaoqin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Xinhua Hosp,Dept Pediat Endocrinol & Genet Metab, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Xinhua Hosp,Dept Pediat Endocrinol & Genet Metab, Shanghai 200092, Peoples R ChinaGu, Xuefan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Xinhua Hosp,Dept Pediat Endocrinol & Genet Metab, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Xinhua Hosp,Dept Pediat Endocrinol & Genet Metab, Shanghai 200092, Peoples R China
- [9] Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 geneHAEMATOLOGICA, 2018, 103 (12) : E564 - E566Smith, Frances论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Mol Pathol, Viapath, London, England Kings Coll Hosp London, Mol Pathol, Viapath, London, EnglandHopton, Sila论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Kings Coll Hosp London, Mol Pathol, Viapath, London, EnglandDallabona, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parma, Italy Kings Coll Hosp London, Mol Pathol, Viapath, London, EnglandGilberti, Micol论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parma, Italy Kings Coll Hosp London, Mol Pathol, Viapath, London, EnglandFalkous, Gavin论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Kings Coll Hosp London, Mol Pathol, Viapath, London, EnglandNorwood, Fiona论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Dept Neurol, London, England Kings Coll Hosp London, Mol Pathol, Viapath, London, England论文数: 引用数: h-index:机构:Gorman, Grainne S.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Kings Coll Hosp London, Mol Pathol, Viapath, London, EnglandClark, Barnaby论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Dept Haematol Med, London, England Kings Coll London, Mol Haematol, London, England Kings Coll Hosp London, Mol Pathol, Viapath, London, EnglandTaylor, Robert W.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Kings Coll Hosp London, Mol Pathol, Viapath, London, EnglandKulasekararaj, Austin G.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Dept Haematol Med, London, England Kings Coll Hosp London, Mol Pathol, Viapath, London, England
- [10] Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54FRONTIERS IN PEDIATRICS, 2022, 10Xu, Xin论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R ChinaLu, Fen论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R ChinaDu, Senjie论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R ChinaZhao, Xiaoke论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R ChinaLi, Hongying论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R ChinaZhang, Li论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R ChinaTang, Jian论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Rehabil, Nanjing, Peoples R China