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- [41] Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki SyndromeGENES BRAIN AND BEHAVIOR, 2019, 18 (08)Yamamoto, Pedro K.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, Brazilde Souza, Tiago A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biomed Sci, Dept Microbiol, Sao Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, BrazilAntiorio, Ana T. F. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, BrazilZanatto, Dennis A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, BrazilGarcia-Gomes, Mariana de Souza A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, BrazilAlexandre-Ribeiro, Sandra R.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, BrazilOliveira, Nicassia de Souza论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, BrazilMenck, Carlos F. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biomed Sci, Dept Microbiol, Sao Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, BrazilBernardi, Maria M.论文数: 0 引用数: 0 h-index: 0机构: Univ Paulista, Grad Program Environm & Expt Pathol, S O Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, BrazilMassironi, Silvia M. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, Brazil Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, BrazilMori, Claudia M. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, Brazil Univ Sao Paulo, Sch Vet Med & Anim Sci, Dept Pathol, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, Brazil
- [42] Congenital heart defects in patient with new KMT2D frameshift mutationEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 986 - 987Krgovic, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Maribor, Lab Med Genet, Maribor, Slovenia Univ Maribor, Med Fac, Maribor, Slovenia Univ Med Ctr Maribor, Lab Med Genet, Maribor, SloveniaHerodez, S. Stangler论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Maribor, Lab Med Genet, Maribor, Slovenia Univ Med Ctr Maribor, Lab Med Genet, Maribor, SloveniaVarda, N. Marcun论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Maribor, Dept Paediat, Maribor, Slovenia Univ Med Ctr Maribor, Lab Med Genet, Maribor, SloveniaZagradisnik, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Maribor, Lab Med Genet, Maribor, Slovenia Univ Med Ctr Maribor, Lab Med Genet, Maribor, SloveniaZagorac, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Maribor, Lab Med Genet, Maribor, Slovenia Univ Med Ctr Maribor, Lab Med Genet, Maribor, SloveniaSkerget, A. Erjavec论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Maribor, Lab Med Genet, Maribor, Slovenia Univ Med Ctr Maribor, Lab Med Genet, Maribor, SloveniaVokac, N. Kokalj论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Maribor, Lab Med Genet, Maribor, Slovenia Univ Maribor, Med Fac, Maribor, Slovenia Univ Med Ctr Maribor, Lab Med Genet, Maribor, Slovenia
- [43] Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature reviewBMC MEDICAL GENETICS, 2018, 19Xin, Chengqi论文数: 0 引用数: 0 h-index: 0机构: Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R China Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R ChinaWang, Chun论文数: 0 引用数: 0 h-index: 0机构: Dalian Med Univ, Dept Neurol, Affiliated Hosp 2, 467 Zhongshan Rd, Dalian 116027, Liaoning, Peoples R China Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R ChinaWang, Yachen论文数: 0 引用数: 0 h-index: 0机构: Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R China Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R ChinaZhao, Jingyuan论文数: 0 引用数: 0 h-index: 0机构: Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R China Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R ChinaWang, Liang论文数: 0 引用数: 0 h-index: 0机构: Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R China Dalian Municipal Women & Childrens Med Ctr, Dept Rehabil, 1,3 Guihuayihao Rd, Dalian 116000, Liaoning, Peoples R China Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R ChinaLi, Runjie论文数: 0 引用数: 0 h-index: 0机构: Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R ChinaLiu, Jing论文数: 0 引用数: 0 h-index: 0机构: Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R China Dalian Med Univ, Natl Joint Engn Lab, Affiliated Hosp 1, Stem Cell Clin Res Ctr, 193 Lianhe Rd, Dalian 116011, Liaoning, Peoples R China
- [44] Identification and functional characterization of a-47 intronic variant in KMT2D causing Kabuki syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 538 - 538Martinez-Gil, Nuria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, Spain Vall Hebron Inst Recerca VHIR, Grp Med Genet, Barcelona, Spain Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, SpainCampos, Berta论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, Spain Vall Hebron Inst Recerca VHIR, Grp Med Genet, Barcelona, Spain Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, SpainMaria Cueto-Gonzalez, Anna论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, Spain Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, SpainMasas, Miriam论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, Spain Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, SpainGarcia-Arumi, Elena论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, Spain Vall Hebron Inst Recerca VHIR, Grp Med Genet, Barcelona, Spain Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, SpainTizzano, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, Spain Vall Hebron Inst Recerca VHIR, Grp Med Genet, Barcelona, Spain Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, Spain
- [45] Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutationSTEM CELL RESEARCH, 2022, 62Lager, Tyson W.论文数: 0 引用数: 0 h-index: 0机构: Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USA Univ Notre Dame, Ctr Stem Cells & Regenerat Med, Notre Dame, IN 46556 USA Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USAZuo, Junjun论文数: 0 引用数: 0 h-index: 0机构: Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USA Univ Notre Dame, Ctr Stem Cells & Regenerat Med, Notre Dame, IN 46556 USA Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USAAlam, Md Suhail论文数: 0 引用数: 0 h-index: 0机构: Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USA Univ Notre Dame, Boler Parseghian Ctr Rare & Neglected Dis, Notre Dame, IN 46556 USA Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USACalhoun, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USA Univ Notre Dame, Boler Parseghian Ctr Rare & Neglected Dis, Notre Dame, IN 46556 USA Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USAHaldar, Kasturi论文数: 0 引用数: 0 h-index: 0机构: Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USA Univ Notre Dame, Boler Parseghian Ctr Rare & Neglected Dis, Notre Dame, IN 46556 USA Univ Notre Dame, Dept Biol Sci, 100 Galvin Life Sci, Notre Dame, IN 46556 USA Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USAPanopoulos, Athanasia D.论文数: 0 引用数: 0 h-index: 0机构: Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USA Univ Notre Dame, Ctr Stem Cells & Regenerat Med, Notre Dame, IN 46556 USA Univ Notre Dame, Harper Canc Res Inst, Notre Dame, IN 46556 USA Univ Notre Dame, Dept Biol Sci, 100 Galvin Life Sci, Notre Dame, IN 46556 USA Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USA
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