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[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (1) 1
[sdv.gen]life sciences [q-bio]/genetics (1) 1
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dna-binding proteins - genetics (1) 1
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epileptic encephalopathy (1) 1
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genetics & heredity (1) 1
global developmental delay (1) 1
h3k4 methylation (1) 1
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1. Full Text Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
by Pais, Lynn S and Abou Jamra, Rami and Accogli, Andrea and Amburgey, Kimberly and Basinger, Alice A and Ceulemans, Sophia and Charles, Perrine and McRae, Jeremy F and Fitzgerald, Tomas W and Rajan, Diana and Ambridge, Kirsty and Jones, Philip and Mason, Laura E and Ahmed, Munaza and Anjum, Uruj and Armstrong, Ruth and Barnicoat, Angela and Bennett, Chris and Blair, Edward and Blyth, Moira and Bourdon, Louise and Brady, Angela and Burn, John and Canham, Natalie and Cilliers, Deirdre and Clayton-Smith, Jill and Coates, Andrea and Cooper, Nicola and Dabir, Tabib and Davies, Sally and Dean, John and Devlin, Gemma and Donnai, Dian and Donnelly, Carina and Evans, Karenza and Fendick, Tina and Goodship, Judith and Green, Andrew and Harrison, Lucy and Holden, Simon and Jarvis, Joanna and Johnson, Diana and Jones, Elizabeth and Kumar, V. K. Ajith and Lachlan, Katherine and Langman, Caroline and Maye, Una and McWilliam, Catherine and Metcalfe, Kay and Norman, Andrew and Ogilvie, Caroline and Park, Soo-Mi and Phipps, Julie and Prescott, Katrina and Procter, Annie and Purnell, Hellen and Ross, Alison and Sampson, Julian and Shannon, Nora and Skitt, Zara and Stewart, Fiona and Stewart, Helen and Swaminathan, Ganesh Jawahar and Taylor, Cat and Tein, Mark and Treacy, Becky and Vandersteen, Anthony and Wallwark, Sarah and Waters, Jonathon and Weber, Astrid and Whiteford, Margo and Widaa, Sara and Wilcox, Sarah and Wilkinson, Emily and Parker, Michael and Barrett, Jeffrey C and Demurger, Florence and Eiset, Saga Elise and Escobar, Luis F and Ferrarini, Alessandra and Hashim, Mona and Kok, Fernando and Masruha, Marcelo R and McWalter, Kirsty and Melchinger, Esther U and Mercimek-Andrews, Saadet and Person, Richard and Ramelli, Gian Paolo and Ramos, Luiza L.P and Rauch, Anita and Sanchez-Valle, Amarilis and Sattar, Shifteh and Saunders, Carol and Steindl, Katharina and Syrbe, Steffen and Vogel, Ida and Wentzensen, Ingrid M and Widjaja, Elysa and Zak, Jaroslav and Banka, Siddharth and Deciphering Developmental Disorders (DDD) Study and Deciphering Dev Disorders DDD
American journal of human genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism | yes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Infant | Male | DNA-Binding Proteins - genetics | Epilepsy - etiology | Neurodevelopmental Disorders - pathology | Haploinsufficiency | Genetic Variation | Young Adult | Phenotype | Pedigree | Adolescent | Adult | Female | Heterozygote | Child | Epilepsy - pathology | Neurodevelopmental Disorders - etiology | Genetic variation | Epilepsy | Nervous system | Genetic aspects | Degeneration | Research | Risk factors | Index Medicus | Life Sciences | Genetics | Human genetics | Report | Medicin och hälsovetenskap
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