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- [1] Is schizophrenia a progressive neurodevelopmental disorder? Toward a unitary pathogenetic mechanismAMERICAN JOURNAL OF PSYCHIATRY, 1998, 155 (12): : 1661 - 1670Woods, BT论文数: 0 引用数: 0 h-index: 0机构: Cent Texas Vet Hlth Care Syst, Neurol Sect, Dept Med, Temple, TX 76502 USA
- [2] Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies in China caused by novel mutations of PLAACLINICAL GENETICS, 2019, 96 (04) : 380 - 381Dai, Congling论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R China Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R ChinaZeng, Sicong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R China Reprod & Genet Hosp Citic Xiangya, Changsha, Hunan, Peoples R China Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R ChinaTan, Zhenhua论文数: 0 引用数: 0 h-index: 0机构: Hunan Guangxiu Hosp, Changsha, Hunan, Peoples R China Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R ChinaYang, Xiaowen论文数: 0 引用数: 0 h-index: 0机构: Reprod & Genet Hosp Citic Xiangya, Changsha, Hunan, Peoples R China Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R ChinaDu, Juan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R China Reprod & Genet Hosp Citic Xiangya, Changsha, Hunan, Peoples R China Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R ChinaLu, Guangxiu论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R China Reprod & Genet Hosp Citic Xiangya, Changsha, Hunan, Peoples R China Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R ChinaWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R China Reprod & Genet Hosp Citic Xiangya, Changsha, Hunan, Peoples R China Hunan Guangxiu Hosp, Changsha, Hunan, Peoples R China Cent South Univ, Sch Basic Med Sci, Inst Reprod & Stem Cell Engn, Changsha, Hunan, Peoples R China
- [3] Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNPBIOLOGICAL PSYCHIATRY, 2019, 85 (04) : 287 - 297Van Dijck, Anke论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Antwerp, Belgium Univ Hosp Antwerp, Dept Neurol, Antwerp, Belgium Univ Antwerp, Dept Med Genet, Prins Boudewijnlaan 43-6, B-2650 Edegem, Belgium Univ Antwerp, Dept Med Genet, Antwerp, BelgiumVulto-van Silfhout, Anneke T.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Univ Antwerp, Dept Med Genet, Antwerp, BelgiumCappuyns, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Antwerp, Belgiumvan der Werf, Ilse M.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Antwerp, BelgiumMancini, Grazia M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Univ Antwerp, Dept Med Genet, Antwerp, Belgium论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Gozes, Illana论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Elton Lab Mol Neuroendocrinol, Tel Aviv, Israel Tel Aviv Univ, Dept Human Mol Genet & Biochem, Tel Aviv, Israel Tel Aviv Univ, Adams Super Ctr Brain Studies IG, Tel Aviv, Israel Univ Antwerp, Dept Med Genet, Antwerp, BelgiumEichler, Evan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA USA Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA Univ Antwerp, Dept Med Genet, Antwerp, BelgiumRomano, Corrado论文数: 0 引用数: 0 h-index: 0机构: Ist Ricovero & Cura Carattere Sci Assoc Oasi Mari, Unit Pediat & Med Genet, Troina, Italy Univ Antwerp, Dept Med Genet, Antwerp, BelgiumLindstrand, Anna论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Univ Antwerp, Dept Med Genet, Antwerp, BelgiumNordgren, Ann论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Univ Antwerp, Dept Med Genet, Antwerp, BelgiumKvarnung, Malin论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Univ Antwerp, Dept Med Genet, Antwerp, BelgiumKleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Univ Antwerp, Dept Med Genet, Antwerp, Belgiumde Vries, Bert B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Univ Antwerp, Dept Med Genet, Antwerp, BelgiumKury, Sebastien论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Antwerp, Dept Med Genet, Antwerp, BelgiumRosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Antwerp, Dept Med Genet, Antwerp, BelgiumMeuwissen, Marije E.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Antwerp, BelgiumVandeweyer, Geert论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Antwerp, BelgiumKooy, R. Frank论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Antwerp, BelgiumBakshi, Madhura论文数: 0 引用数: 0 h-index: 0机构: Westmead Hosp, Dept Med Genet, Sydney, NSW, Australia Univ Antwerp, Dept Med Genet, Antwerp, BelgiumWilson, Meredith论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Dept Clin Genet, Westmead, NSW, Australia Univ Antwerp, Dept Med Genet, Antwerp, BelgiumBerman, Yemina论文数: 0 引用数: 0 h-index: 0机构: Royal North Shore Hosp, Dept Clin Genet, Sydney, NSW, Australia Univ Antwerp, Dept Med Genet, Antwerp, BelgiumDickson, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Royal North Shore Hosp, Dept Clin Genet, Sydney, NSW, Australia Univ Antwerp, Dept Med Genet, Antwerp, Belgium论文数: 引用数: h-index:机构:Helsmoortel, Celine论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Prins Boudewijnlaan 43-6, B-2650 Edegem, Belgium Univ Antwerp, Dept Med Genet, Antwerp, BelgiumVan den Ende, Jenneke论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Prins Boudewijnlaan 43-6, B-2650 Edegem, Belgium Univ Hosp Antwerp, Dept Med Genet, Edegem, Belgium Univ Antwerp, Dept Med Genet, Antwerp, BelgiumVan der Aa, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Prins Boudewijnlaan 43-6, B-2650 Edegem, Belgium Univ Antwerp, Dept Med Genet, Antwerp, Belgiumvan de Wijdeven, Marina J.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Prins Boudewijnlaan 43-6, B-2650 Edegem, Belgium Univ Antwerp, Dept Med Genet, Antwerp, BelgiumRosenblum, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Dept Med Genet, Prins Boudewijnlaan 43-6, B-2650 Edegem, Belgium Univ Antwerp, Dept Med Genet, Antwerp, BelgiumMonteiro, Fabiola论文数: 0 引用数: 0 h-index: 0机构: Mendel Genom Anal, Sao Paulo, Brazil Univ Estadual Campinas, Dept Med Genet, Campinas, Brazil Univ Antwerp, Dept Med Genet, Antwerp, BelgiumKok, Fernando论文数: 0 引用数: 0 h-index: 0机构: Mendel Genom Anal, Sao Paulo, Brazil Univ Sao Paulo, Dept Neurol, Sao Paulo, Brazil Univ Antwerp, Dept Med Genet, Antwerp, BelgiumQuercia, Nada论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Div Clin & Metab Genet, Hosp Sick Children, Dept Mol Genet, Toronto, ON, Canada Univ Antwerp, Dept Med Genet, Antwerp, BelgiumBowdin, Sarah论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Antwerp, Dept Med Genet, Antwerp, BelgiumDyment, David论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Univ Antwerp, Dept Med Genet, Antwerp, Belgium论文数: 引用数: h-index:机构:Alkhunaizi, Ebba论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Prenatal Diag & Med Genet Program, Mt Sinai Hosp, Dept Obstet & Gynecol, Toronto, ON, Canada Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON, Canada Univ Antwerp, Dept Med Genet, Antwerp, BelgiumBoonen, Susanne E.论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Roskilde Dept Clin Genet, Zealand Univ Hosp, Dept Paediat,Clin Genet Unit, Aarhus, Denmark Univ Antwerp, Dept Med Genet, Antwerp, BelgiumKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Univ Pierre & Marie Curie Paris 06, Hop Pitie Salpetriere, AP HP,Inst Cerveau & Moelle Epiniere, Paris Sorbonne Univ,Dept Genet,Unite Mixte Rech S, Paris, France Univ Antwerp, Dept Med Genet, Antwerp, BelgiumJacquette, Aurelia论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, Dept Genet, Paris, France Univ Antwerp, Dept Med Genet, Antwerp, BelgiumFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, Dijon, France Univ Antwerp, Dept Med Genet, Antwerp, BelgiumBezieau, Stephane论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Antwerp, Dept Med Genet, Antwerp, BelgiumIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Antwerp, Dept Med Genet, Antwerp, BelgiumRiess, Angelika论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Gen, Tubingen, Germany Univ Antwerp, Dept Med Genet, Antwerp, BelgiumMoog, Ute论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Heidelberg, Germany Univ Antwerp, Dept Med Genet, Antwerp, BelgiumLynch, Sally Ann论文数: 0 引用数: 0 h-index: 0机构: Dublin City Univ, Our Ladys Childrens Hosp, Dublin, Ireland Univ Antwerp, Dept Med Genet, Antwerp, BelgiumMcVeigh, Terri论文数: 0 引用数: 0 h-index: 0机构: Dublin City Univ, Our Ladys Childrens Hosp, Dublin, Ireland Univ Antwerp, Dept Med Genet, Antwerp, BelgiumElpeleg, Orly论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet, Jerusalem, Israel Univ Antwerp, Dept Med Genet, Antwerp, BelgiumSmeland, Marie Falkenberg论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp North Norway, Div Child & Adolescent Hlth, Dept Med Genet, Tromso, Norway Univ Antwerp, Dept Med Genet, Antwerp, BelgiumFannemel, Madeleine论文数: 0 引用数: 0 h-index: 0机构: Univ Oslo, Dept Med Genet, Oslo, Norway Oslo Univ Hosp, Oslo, Norway Univ Antwerp, Dept Med Genet, Antwerp, Belgium
- [4] A distinct neurodevelopmental disorder is caused by mutations in synaptotagmin-1 that alter neurotransmitter release dynamicsJOURNAL OF NEUROCHEMISTRY, 2019, 150 : 77 - 78Melland, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaBumbak, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaLeech, S. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaScott, D. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaBaker, K.论文数: 0 引用数: 0 h-index: 0机构: MRC Cognit & Brain Sci Unit, Execut Proc Grp, Cambridge, England Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaGordon, S. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia
- [5] A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexesHUMAN MOLECULAR GENETICS, 2019, 28 (09) : 1548 - 1560Gershlick, David C.论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20892 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20892 USAIshida, Morie论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20892 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20892 USAJones, Julie R.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20892 USABellomo, Allison论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20892 USABonifacino, Juan S.论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20892 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20892 USAEverman, David B.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20892 USA
- [6] Novel homozygous missense variants in MED27 associated with neurodevelopmental disorder: Clinical and pathogenetic researchHELIYON, 2024, 10 (17)Wu, Gongao论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R ChinaLian, Ruofei论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R ChinaLi, Mengchun论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R ChinaJin, Liang论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R ChinaJia, Tianming论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R ChinaWang, Lijun论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R ChinaGan, Ling论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R ChinaZhao, Shichao论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R ChinaLiang, Ruirui论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R ChinaDong, Yan论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China
- [7] RETRACTED: A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development (Retracted Article)BIOMED RESEARCH INTERNATIONAL, 2021, 2021Shen, Ru论文数: 0 引用数: 0 h-index: 0机构: Kunming Med Univ, Div Lab, Kunming Childrens Hosp, Kunming 650028, Yunnan, Peoples R China Kunming Med Univ, Div Lab, Kunming Childrens Hosp, Kunming 650028, Yunnan, Peoples R ChinaZhang, Zhen论文数: 0 引用数: 0 h-index: 0机构: Kunming Childrens Hosp, Inst Pediat, Key Lab Child Crit Dis Res Yunnan Prov, Kunming 650028, Yunnan, Peoples R China Kunming Med Univ, Div Lab, Kunming Childrens Hosp, Kunming 650028, Yunnan, Peoples R ChinaZhuang, Yu论文数: 0 引用数: 0 h-index: 0机构: Kunming Med Univ, Div Lab, Kunming Childrens Hosp, Kunming 650028, Yunnan, Peoples R China Kunming Med Univ, Div Lab, Kunming Childrens Hosp, Kunming 650028, Yunnan, Peoples R ChinaYang, Xiaohong论文数: 0 引用数: 0 h-index: 0机构: Kunming Med Univ, Div Lab, Kunming Childrens Hosp, Kunming 650028, Yunnan, Peoples R China Kunming Med Univ, Div Lab, Kunming Childrens Hosp, Kunming 650028, Yunnan, Peoples R ChinaDuan, Lifen论文数: 0 引用数: 0 h-index: 0机构: Kunming Med Univ, Div Neurol, Kunming Childrens Hosp, Kunming 650028, Yunnan, Peoples R China Kunming Med Univ, Div Lab, Kunming Childrens Hosp, Kunming 650028, Yunnan, Peoples R China
- [8] A NOVEL NON-NEUROLOGICAL CONGENITAL DISORDER OF GLYCOSYLATION CAUSED BY MUTATIONS IN THE PHOSPHOGLUCOMUTASE 1 GENEJOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S111 - S111Perez, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, Spain Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, SpainMedrano, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, Spain Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, SpainEcay, M. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, Spain Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, SpainRuiz Sala, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, Spain Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, SpainMartinez-Pardo, M.论文数: 0 引用数: 0 h-index: 0机构: U Enf Metab S Pediatr H Ramon & Cajal, Madrid, Spain Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, SpainUgarte, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, Spain Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, SpainPerez-Cerda, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, Spain Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, Spain
- [9] A novel mechanism for preventing mutations caused by oxidation of guanine nucleotidesEMBO REPORTS, 2003, 4 (05) : 479 - 483Ishibashi, T论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Dent Coll, Dept Biol, Fukuoka 8140193, JapanHayakawa, H论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Dent Coll, Dept Biol, Fukuoka 8140193, JapanSekiguchi, M论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Dent Coll, Dept Biol, Fukuoka 8140193, Japan
- [10] A NOVEL KIF1A MUTATION CAUSING A NEURODEVELOPMENTAL DISORDERJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2018, 89 (10):Jacob, Day论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandPeter, Turnpenny论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandNick, Gutowski论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England