نتائج البحث - "Kingston, Helen M."

1

دورية أكاديمية

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

المؤلفون: Harkness, J. Robert, Thomas, Huw B., Urquhart, Jill E., Jamieson, Peter, O'Keefe, Raymond T., Kingston, Helen M., Deshpande, Charulata, Newman, William G.

المصدر: Harkness , J R , Thomas , H B , Urquhart , J E , Jamieson , P , O'Keefe , R T , Kingston , H M , Deshpande , C & Newman , W G 2024 , ' Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype ' , European journal of medical genetics , vol. 67 , 104907 . https://doi.org/10.1016/j.ejmg.2023.104907Test

مصطلحات موضوعية: ATP7A, Deep intronic variant, Genome, Menkes disease, Non-coding, Occipital horn syndrome, Rare disease, Splicing

العلاقة: https://research.manchester.ac.uk/en/publications/ccc32a31-ab7b-48e8-9e8a-c35502b49e0bTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104907Test
https://research.manchester.ac.uk/en/publications/ccc32a31-ab7b-48e8-9e8a-c35502b49e0bTest
http://www.scopus.com/inward/record.url?scp=85181260168&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/d00564bd-ebb5-37e1-8e39-4a848c83160cTest/

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2

دورية أكاديمية

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

المؤلفون: Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco

المصدر: Radio , F C , Pang , K , Ciolfi , A , Levy , M A , Hernández-García , A , Pedace , L , Pantaleoni , F , Liu , Z , de Boer , E , Jackson , A , Bruselles , A , McConkey , H , Stellacci , E , Lo Cicero , S , Motta , M , Carrozzo , R , Dentici , M L , McWalter , K , Desai , M , Monaghan , K G , Telegrafi , A , Philippe , C , Vitobello , A , Au ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.015Test
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184Test
https://pure.eur.nl/ws/files/53889029/SPEN_haploinsufficiency_causes_a_neurodevelopmental_disorder_overlapping_proximal_1p36_deletion_syndrome_with_an_episignature_of_X_chromosomes_in_females.pdfTest
http://www.scopus.com/inward/record.url?scp=85101770406&partnerID=8YFLogxKTest

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3

دورية أكاديمية

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

المصدر: Molina-Ramírez , L P , Kyle , C , Ellingford , J M , Wright , R , Taylor , A , Bhaskar , S S , Campbell , C , Jackson , H , Fairclough , A , Rousseau , A , Burghel , G J , Dutton , L , Banka , S , Briggs , T A , Clayton-Smith , J , Douzgou , S , Jones , E A , Kingston , H M , Kerr , B , Ealing , J , Somarathi , S , Chandler , K E , Stuart , H ....

مصطلحات موضوعية: early diagnosis, genetics, genomics, medical

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107303Test
https://research.manchester.ac.uk/en/publications/b8cc7e77-7d43-4ac0-a7c2-56ab305c211fTest
https://pure.manchester.ac.uk/ws/files/194448392/jmedgenet_2020_107303.full.pdfTest

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4

دورية أكاديمية

Connectedness benefits both patients and staff

المؤلفون: Kingston, Helen M

مصطلحات موضوعية: LETTERS

وصف الملف: text/html

العلاقة: http://www.bmj.com/cgi/content/short/363/oct16_12/k4305Test; http://dx.doi.org/10.1136/bmj.k4305Test

الإتاحة: https://doi.org/10.1136/bmj.k4305Test
http://www.bmj.com/cgi/content/short/363/oct16_12/k4305Test

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5

كتاب

ABC of clinical genetics / Helen M. Kingston.
Clinical genetics

المؤلفون: Kingston, Helen M.

المصدر: Bibliogr. s. 112-113. Indeks.

مصطلحات موضوعية: Genetyka medyczna, Aberracje chromosomowe, Choroby genetyczne wrodzone

الوصول الحر: http://katalog.nukat.edu.pl/lib/item?id=chamo:894704&theme=nukatTest

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6

دورية أكاديمية

Clinical and molecular phenotype of Aicardi-Goutières syndrome

المؤلفون: Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Baxter, Peter, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Biancheri, Roberta, Blair, Edward M., Blau, Nenad, Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Brunner, Han G., Burke, Christopher J., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D'Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Hennekam, Raoul C., Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Van Der Knaap, Marjo S., Kornberg, Andrew J., Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Landrieu, Pierre Georges, Lanzi, Giovanni, Leitch, Andrea, Lim, Ming J., Livingston, John H., Lourenco, Charles M., Lyall, E. G.Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McClure, John P., McWilliam, Robert, Melancon, Serge B., Mewasingh, Leena D., Moutard, Marie Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rosser, Elisabeth M., Rostasy, Kevin, Roubertie, Agathe, Sanchis, Amparo, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Soler, Doriette, Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tiong, Yang Tan, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van Der Aa, Nathalie, Vanderver, Adeline, Vles, Johannes S.H., Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Zuberi, Sameer M., Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.

المصدر: Rice , G , Patrick , T , Parmar , R , Taylor , C F , Aeby , A , Aicardi , J , Artuch , R , Montalto , S A , Bacino , C A , Barroso , B , Baxter , P , Benko , W S , Bergmann , C , Bertini , E , Biancheri , R , Blair , E M , Blau , N , Bonthron , D T , Briggs , T , Brueton , L A , Brunner , H G , Burke , C J , Carr , ....

العلاقة: https://research.vumc.nl/en/publications/679ce1b1-4494-45c0-822d-b1e0d1619319Test

الإتاحة: https://doi.org/10.1086/521373Test
https://research.vumc.nl/en/publications/679ce1b1-4494-45c0-822d-b1e0d1619319Test
http://www.scopus.com/inward/record.url?scp=35349019691&partnerID=8YFLogxKTest

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