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  1. Bahr, Jason Komponist; Bates, Mason Komponist; Belcastro, Richard Komponist; Callender, Clifton Komponist; Capp, Tyler Komponist; Castillo, Patrick Komponist; Cooman, Carson Komponist; Coons, Lisa R. Komponist; Dillon, Lawrence Komponist; Eggert, Moritz Komponist; Einbond, Aaron Komponist; Grey, Mark Komponist; Harrington, Jeffrey Komponist; He, Jianjun Komponist; Hodkinson, Sydney Komponist; Juusela, Kari Henrik Komponist; Kellogg, Daniel Komponist; Kennedy, John M. Komponist; Lam, Lan-chee Komponist; Mellits, Marc Komponist; Morozumi, Hiro Komponist; Oliver, John Komponist; Schimmel, Carl Komponist; Schoenberg, Adam Komponist; [...]

    VIOLIN FUTURA - 21st Century Solo Violin Project (Szewczyk)

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    Navona, 160212

    Published in: Navona

  2. Cluver, Lucie D.; Rudgard, William E.; Toska, Elona; Zhou, Siyanai; Campeau, Laurence; Shenderovich, Yulia; Orkin, Mark; Desmond, Chris; Butchart, Alexander; Taylor, Howard; Meinck, Franziska; Sherr, Lorraine

    Violence prevention accelerators for children and adolescents in South Africa: A path analysis using two pooled cohorts

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    Public Library of Science (PLoS), 2020

    Published in: PLOS Medicine

  3. Lennox, Ashley L.; Hoye, Mariah L.; Jiang, Ruiji; Johnson-Kerner, Bethany L.; Suit, Lindsey A.; Venkataramanan, Srivats; Sheehan, Charles J.; Alsina, Fernando C.; Fregeau, Brieana; Aldinger, Kimberly A.; Moey, Ching; Lobach, Iryna; Afenjar, Alexandra; Babovic-Vuksanovic, Dusica; Bézieau, Stéphane; Blackburn, Patrick R.; Bunt, Jens; Burglen, Lydie; Campeau, Philippe M.; Charles, Perrine; Chung, Brian H.Y.; Cogné, Benjamin; Curry, Cynthia; D’Agostino, Maria Daniela; [...]

    Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

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    Elsevier BV, 2020

    Published in: Neuron

  4. Schanze, Ina; Bunt, Jens; Lim, Jonathan W.C.; Schanze, Denny; Dean, Ryan J.; Alders, Marielle; Blanchet, Patricia; Attié-Bitach, Tania; Berland, Siren; Boogert, Steven; Boppudi, Sangamitra; Bridges, Caitlin J.; Cho, Megan T.; Dobyns, William B.; Donnai, Dian; Douglas, Jessica; Earl, Dawn L.; Edwards, Timothy J.; Faivre, Laurence; Fregeau, Brieana; Genevieve, David; Gérard, Marion; Gatinois, Vincent; Holder-Espinasse, Muriel; [...]

    NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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    Elsevier BV, 2018

    Published in: The American Journal of Human Genetics

  5. Philip Boone; Kamli Faour; Kiana Mohajeri; John Lemanski; Bimal Jana; Jack Fu; Jennifer Kerkhof; Haley McConkey; Ryan Collins; Diane Lucente; Celine de Esch; Mariana Moysés-Oliveira; Alexander Nuttle; Aloysius Domingo; Serkan Erdin; Maris Hanley; Amy Watt; Eric Surette; Gloria Lima; Laura Smith; Monica Salani; Rachita Yadav; Ricardo Harripaul; Kathryn O’Keefe; [...]

    P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*

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    2023

    Published in: Genetics in Medicine Open

  6. Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; [...]

    Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

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    Springer Science and Business Media LLC, 2017

    Published in: Nature Genetics

  7. Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; [...]

    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

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    Springer Science and Business Media LLC, 2016

    Published in: Nature Genetics