Zobrazeno 1 - 10
of 63
pro vyhledávání: '"McKay, Victoria A."'
Akademický článek
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Autor:
Kharbanda, Mira, Pilz, Daniela T., Tomkins, Susan, Chandler, Kate, Saggar, Anand, Fryer, Alan, McKay, Victoria, Louro, Pedro, Smith, Jill Clayton, Burn, John, Kini, Usha, De Burca, Anna, FitzPatrick, David R., Kinning, Esther
Publikováno v:
In European Journal of Medical Genetics February 2017 60(2):130-135
Autor:
Gregersen, Pernille A.1,2,3 (AUTHOR) perngreg@rm.dk, McKay, Victoria4 (AUTHOR), Walsh, Maie3,5 (AUTHOR), Brown, Erica6 (AUTHOR), McGillivray, George3,6,7 (AUTHOR), Savarirayan, Ravi3,7 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. Jun2020, Vol. 8 Issue 6, p1-6. 6p.
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Autor:
Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A. L., Nibbeling, Esther, Dingemans, Alexander J. M., Douine, Emilie D., Nelson, Stanley F., Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A., Newbury-Ecob, Ruth
Publikováno v:
Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, Hopper, B, Tan, T Y, Yap, P, Stark, Z, Okamoto, N, Miyake, N, Matsumoto, N, Macnamara, E, Murphy, J L, McCormick, E, Hakonarson, H, Falk, M J, Li, D, Blackburn, P, Klee, E, Babovic-Vuksanovic, D, Schelley, S, Hudgins, L, Kant, S, Isidor, B, Cogne, B, Bradbury, K, Williams, M, Patel, C, Heussler, H, Duff-Farrier, C, Lakeman, P, Scurr, I, Kini, U, Elting, M, Reijnders, M, Schuurs-Hoeijmakers, J, Wafik, M, Blomhoff, A, Ruivenkamp, C A L, Nibbeling, E, Dingemans, A J M, Douine, E D, Nelson, S F, Hempel, M, Bierhals, T, Lessel, D, The DDD study, Johannsen, J, Arboleda, V A & Newbury-Ecob, R 2020, ' Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2) ', Genetics in Medicine, vol. 22, no. 11, pp. 1920 . https://doi.org/10.1038/s41436-020-00944-7
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10172::6719d57da365c0aa00af023efd977d2c
https://research.vumc.nl/en/publications/fa0da8e1-b08a-4d21-abfd-0966d2941410
https://research.vumc.nl/en/publications/fa0da8e1-b08a-4d21-abfd-0966d2941410
Autor:
Gregersen, Pernille A, McKay, Victoria, Walsh, Maie, McGillivray, George, Savarirayan R., Ravi
Publikováno v:
Gregersen, P A, McKay, V, Walsh, M, McGillivray, G & Savarirayan R., R 2019, ' A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia and Astley-Kendall dysplasia are allelic disorders ', Molecular Genetics and Genomic Medicine .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pure_au_____::d262b59546c743b08b3f4335717343e9
https://pure.au.dk/portal/da/publications/a-new-case-of-greenberg-dysplasia-and-literature-review-suggest-that-greenberg-dysplasia-dappled-diaphyseal-dysplasia-and-astleykendall-dysplasia-are-allelic-disorders(8fffc969-0eb2-4325-9e68-9142e9214627).html
https://pure.au.dk/portal/da/publications/a-new-case-of-greenberg-dysplasia-and-literature-review-suggest-that-greenberg-dysplasia-dappled-diaphyseal-dysplasia-and-astleykendall-dysplasia-are-allelic-disorders(8fffc969-0eb2-4325-9e68-9142e9214627).html
Autor:
Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
Publikováno v:
Prenatal Diagnosis
Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies. We descri
Autor:
Field, Mark, Kuduvalli, Manoj, Torella, Francesco, McKay, Victoria, Khalatbari, Afshin, Lip, Gregory Y. H.
Publikováno v:
Thrombosis & Haemostasis; Feb2022, Vol. 122 Issue 2, p177-180, 4p
Autor:
Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, DDD Study, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
PurposePathogenic variantsin KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::6eecb8e146338cfb597c0809e64ec872
https://escholarship.org/uc/item/79s761gb
https://escholarship.org/uc/item/79s761gb
Autor:
Stals, Karen L, Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C, Lango Allen, Hana, Bradley, Lisa, Brady, Angela F, Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E, Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury-Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D, Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L, Ellard, Sian
OBJECTIVE: Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies. We descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bc628bb2d30b9d37b03f1a57331b42cb
https://openaccess.sgul.ac.uk/id/eprint/110101/1/Stals_et_al-2018-Prenatal_Diagnosis.pdf
https://openaccess.sgul.ac.uk/id/eprint/110101/1/Stals_et_al-2018-Prenatal_Diagnosis.pdf