Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ramos, Luiza LP"'
Autor:
O'Donnell-Luria, Anne H, Pais, Lynn S, Faundes, Víctor, Wood, Jordan C, Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A, Bianchini, Claudia, Bird, Lynne M, Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Deciphering Developmental Disorders (DDD) Study, Demurger, Florence, Dowling, James J, Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F, Ferrarini, Alessandra, Haack, Tobias B, Hashim, Mona, Heide, Solveig, Helbig, Katherine L, Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R, Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y, Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M, Maegawa, Gustavo HB, Marcelis, Carlo LM, Mark, Paul R, Masruha, Marcelo R, McLaughlin, Heather M, McWalter, Kirsty, Melchinger, Esther U, Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza LP, Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C, Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A, van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G, Wentzensen, Ingrid M, Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H
Publikováno v:
American journal of human genetics, vol 104, iss 6
We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3ae35fd927d079595bed9e186fb8d6fe
https://openaccess.sgul.ac.uk/id/eprint/113838/1/O'Donnell-LuriaetalAAM2019.pdf
https://openaccess.sgul.ac.uk/id/eprint/113838/1/O'Donnell-LuriaetalAAM2019.pdf
Autor:
Chen G; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Yu B; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Tan S; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Tan J; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Jia X; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang X; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Jiang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Hua Y; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Han Y; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Luo S; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA., Bernier RA; Department of Psychiatry, University of Washington, Seattle, Washington, USA., Earl RK; Department of Psychiatry, University of Washington, Seattle, Washington, USA., Kurtz-Nelson EC; Department of Psychiatry, University of Washington, Seattle, Washington, USA., Idleburg MJ; Department of Medical Genetics, University of Pittsburgh Medical Center (UPMC) Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Madan-Khetarpal S; Department of Medical Genetics, University of Pittsburgh Medical Center (UPMC) Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Clark R; Department of Medical Genetics, University of Pittsburgh Medical Center (UPMC) Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Sebastian J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Fernandez-Jaen A; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid, Madrid, Spain., Alvarez S; Department of Genomics and Medicine, Genomics and Medicine, NIMGenetics, Madrid, Spain., King SD; Department of Neurology, Baylor College of Medicine, Houston, Texas, USA., Ramos LL; Mendelics Genomic Analysis, Sao Paulo, Brazil.; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil., Santos MLS; Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Paraná, Brazil., Martin DM; Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA., Brooks D; Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA., Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom., Cutcutache I; Translational Medicine, UCB Pharma, Slough, United Kingdom., Pan Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Hu Z; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Yuan L; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA., Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai, China.; Hengyang Medical School, University of South China, Hunan, China., Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan, China.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2022 Oct 03; Vol. 132 (19). Date of Electronic Publication: 2022 Oct 03.
