المؤلفون: Karayol, Remzi, Borroto, Maria Carla, Haghshenas, Sadegheh, Namasivayam, Anoja, Reilly, Jack, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Shvedunova, Maria, Petersen, Andrea K, Magnussen, Kari, Zweier, Christiane, Vasileiou, Georgia, Reis, André, Savatt, Juliann M, Mulligan, Meghan R, Bicknell, Louise S, Poke, Gemma, Abu-El-Haija, Aya, Duis, Jessica, Hannig, Vickie, Srivastava, Siddharth, Barkoudah, Elizabeth, Hauser, Natalie S, van den Born, Myrthe, Hamiel, Uri, Henig, Noa, Baris Feldman, Hagit, McKee, Shane, Krapels, Ingrid P C, Lei, Yunping, Todorova, Albena, Yordanova, Ralitsa, Atemin, Slavena, Rogac, Mihael, McConnell, Vivienne, Chassevent, Anna, Barañano, Kristin W, Shashi, Vandana, Sullivan, Jennifer A, Peron, Angela, Iascone, Maria, Canevini, Maria P, Friedman, Jennifer, Reyes, Iris A, Kierstein, Janell, Shen, Joseph J, Ahmed, Faria N, Mao, Xiao, Sadikovic, Bekim, Akhtar, Asifa

المصدر: Karayol , R , Borroto , M C , Haghshenas , S , Namasivayam , A , Reilly , J , Levy , M A , Relator , R , Kerkhof , J , McConkey , H , Shvedunova , M , Petersen , A K , Magnussen , K , Zweier , C , Vasileiou , G , Reis , A , Savatt , J M , Mulligan , M R , Bicknell , L S , Poke , G , Abu-El-Haija , A , Duis , J , Hannig , V , Srivastava , S , Barkoudah ....

مصطلحات موضوعية: MSL2, autism, connective tissue, epigenetics, epilepsy, episignature, iPSC, male-specific lethal complex, neurodevelopmental syndrome

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/19226d0a-44bf-4a46-9eea-fdf815418363Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.05.001Test
https://cris.maastrichtuniversity.nl/en/publications/19226d0a-44bf-4a46-9eea-fdf815418363Test

المؤلفون: Fellows, Bridget J., Tolezano, Giovanna Cantini, Pires, Sara Ferreira, Ruegg, Mischa S. G., Knapp, Karen M., Krepischi, Ana Cristina Victorino, Bicknell, Louise S.

المساهمون: Fundação de Amparo à Pesquisa do Estado de São Paulo, Health Research Council of New Zealand

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 3 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63468Test

المؤلفون: Mulligan, Meghan R., Bicknell, Louise S.

المساهمون: University of Otago

المصدر: European Journal of Human Genetics ; volume 31, issue 11, page 1209-1217 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-023-01456-zTest
https://www.nature.com/articles/s41431-023-01456-z.pdfTest
https://www.nature.com/articles/s41431-023-01456-zTest

المؤلفون: Nielsen-Dandoroff, Emily, Ruegg, Mischa S. G., Bicknell, Louise S.

المساهمون: University of Otago

المصدر: European Journal of Human Genetics ; volume 31, issue 8, page 859-868 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-023-01359-zTest
https://www.nature.com/articles/s41431-023-01359-z.pdfTest
https://www.nature.com/articles/s41431-023-01359-zTest

المؤلفون: Bicknell, Louise Susan

مصطلحات موضوعية: dislocations, genetic aspects, hip joint, congenital dislocation, human abnormalities

الإتاحة: http://adt.otago.ac.nz./public/adt-NZDU20080211.151359Test

المؤلفون: Fellows, Bridget J., Tolezano, Giovanna Cantini, Pires, Sara Ferreira, Ruegg, Mischa S. G., Knapp, Karen M., Krepischi, Ana Cristina Victorino, Bicknell, Louise S.

المصدر: American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-6, 6p

المؤلفون: Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza‐Meireles, Ana, Elting, Mariet W, Waisfisz, Quinten, O'Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S, Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, Ruivenkamp, Claudia AL, Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M M, Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurant, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valérie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, A., Specchio, Nicola, Tartaglia, M., Rio, Marlene, Barcia, Giulia, Rondeau, sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D, Bicknell, Louise S., van Haaften, Gijs

وصف الملف: text; spreadsheet

العلاقة: https://eprints.soton.ac.uk/454960/1/AJHG_D_21_00815_R2_accepted.pdfTest; https://eprints.soton.ac.uk/454960/2/Table_S1.xlsxTest; https://eprints.soton.ac.uk/454960/3/1_s2.0_S0002929722000544_main.pdfTest; Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza‐Meireles, Ana, Elting, Mariet W, Waisfisz, Quinten, O'Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S, Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, Ruivenkamp, Claudia AL, Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M M, Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurant, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valérie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, A., Specchio, Nicola, Tartaglia, M., Rio, Marlene, Barcia, Giulia, Rondeau, sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D, Bicknell, Louise S. and van Haaften, Gijs (2022) Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. The American Journal of Human Genetics, 109 (4), 750-758. (doi:10.1016/j.ajhg.2022.02.003 ).

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.02.003Test
https://eprints.soton.ac.uk/454960Test/
https://eprints.soton.ac.uk/454960/1/AJHG_D_21_00815_R2_accepted.pdfTest
https://eprints.soton.ac.uk/454960/2/Table_S1.xlsxTest
https://eprints.soton.ac.uk/454960/3/1_s2.0_S0002929722000544_main.pdfTest

المؤلفون: Carter, Shannon, Fellows, Bridget J., Gibson, Kate, Bicknell, Louise S.

المساهمون: Manatu Hauora | Health Research Council of New Zealand

المصدر: European Journal of Human Genetics ; volume 30, issue 10, page 1178-1181 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-022-01154-2Test
https://www.nature.com/articles/s41431-022-01154-2.pdfTest
https://www.nature.com/articles/s41431-022-01154-2Test

المؤلفون: Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O' Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L

المصدر: Journal of Medical Genetics. 52(3)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Pediatric, Human Genome, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Animals, Centrioles, Chromosomal Proteins, Non-Histone, Cilia, Exome, Female, Fetus, Genetics, Medical, HEK293 Cells, High-Throughput Nucleotide Sequencing, Humans, Male, Mice, Microcephaly, Microfilament Proteins, Mutation, NIH 3T3 Cells, Pedigree, Pregnancy, Zebrafish, CENPF, Ciliopathy, Clinical genetics, Molecular genetics, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0xw767c6Test

المؤلفون: Knapp, Karen M, Sullivan, Rosie, Murray, Jennie, Gimenez, Gregory, Arn, Pamela, D'Souza, Precilla, Gezdirici, Alper, Wilson, William G, Jackson, Andrew P, Ferreira, Carlos, Bicknell, Louise S

مصطلحات موضوعية: Novel disease loci

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/57/3/195Test; http://dx.doi.org/10.1136/jmedgenet-2019-106396Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106396Test
http://jmg.bmj.com/cgi/content/short/57/3/195Test