المؤلفون: 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, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth

المصدر: Genetics in Medicine. 21(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Brain Disorders, Rare Diseases, Pediatric, Clinical Research, Digestive Diseases, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Developmental Disabilities, Exome, Female, Genetic Association Studies, Genotype, Histone Acetyltransferases, Humans, Infant, Intellectual Disability, Male, Microcephaly, Mutation, Phenotype, Protein Isoforms, Young Adult, genetic diagnosis, phenotypic spectrum, KAT6A syndrome, chromatin modifiers, intellectual disability, DDD Study, KAT6A syndrome, chromatin modifiers, intellectual disability, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/79s761gbTest

المؤلفون: Odedra, Amar, Blumenow, Wendy, Dainty, Jennifer, Dasgupta, Soumit, Dominguez-Gonzalez, Susana, Gonzalez-Martin, Jose, Hartley, Helen, Kelly, Maria, McKay, Victoria H., Sharma, Ravi, Spinty, Stefan, Fattah, Adel Y.

المصدر: Journal of Clinical Medicine; Jun2024, Vol. 13 Issue 11, p3309, 14p

مصطلحات موضوعية: FACIAL paralysis, SPEECH therapists, DROOLING, SYNDROMES, TREATMENT delay (Medicine), PSYCHOLOGISTS, RARE diseases

المؤلفون: Field, Mark, Kuduvalli, Manoj, Torella, Francesco, McKay, Victoria, Khalatbari, Afshin, Lip, Gregory Y. H.

المصدر: Thrombosis and Haemostasis ; volume 122, issue 02, page 177-180 ; ISSN 0340-6245 2567-689X

الإتاحة: https://doi.org/10.1055/a-1591-8033Test

المؤلفون: Anderson, Emily, McKay, Victoria

المصدر: Contemporary Rhinology: Science and Practice ; page 81-90 ; ISBN 9783031286896 9783031286902

الإتاحة: https://doi.org/10.1007/978-3-031-28690-2_7Test

المؤلفون: Ghazal Asswad, Amjad, Naraen, Akriti, Fairbairn, Timothy, Modi, Simon, Shaw, Matthew, Somauroo, John, Stables, Rod, Todd, Derick, McKay, Victoria, Cooper, Rob

المصدر: Valve Disease/Pericardial Disease/Cardiomyopathy

الإتاحة: https://doi.org/10.1136/heartjnl-2019-bcs.131Test

المؤلفون: 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

المصدر: 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 , ....

العلاقة: https://research.vumc.nl/en/publications/fa0da8e1-b08a-4d21-abfd-0966d2941410Test

الإتاحة: https://doi.org/10.1038/s41436-020-00944-7Test
https://doi.org/10.1038/s41436-018-0259-2Test
https://research.vumc.nl/en/publications/fa0da8e1-b08a-4d21-abfd-0966d2941410Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85089491461&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/32814847Test

المؤلفون: Gregersen, Pernille A., McKay, Victoria, Walsh, Maie, Brown, Erica, McGillivray, George, Savarirayan, Ravi

المصدر: Gregersen , P A , McKay , V , Walsh , M , Brown , E , McGillivray , G & Savarirayan , R 2020 , ' 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 , vol. 8 , no. 6 , e1173 . https://doi.org/10.1002/mgg3.1173Test

مصطلحات موضوعية: abnormal sterol metabolism, Greenberg dysplasia, LBR, Skeletal dysplasia

الإتاحة: https://doi.org/10.1002/mgg3.1173Test
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-disordersTest(294daae6-79b9-445c-b8ee-8415e878ddb5).html
http://www.scopus.com/inward/record.url?scp=85083573223&partnerID=8YFLogxKTest

المؤلفون: Abbasciano, R. G., Barwell, J., Sayers, R., Bown, M., Milewicz, D., Cooper, G., Mariscalco, G., Wheeldon, N., Fowler, C., Owens, G., Murphy, G. J., Cooper, Graham, Fowler, Catherine, Callaway, Mark, Chelliah, Rajesh, Deshpande, Aparna, Khoo, Jeffrey, McCann, Gerry, Rao, Praveen, Bown, Matthew, Milewicz, Dianna, Dorkins, Huw, Field, Mark, Fletcher-Francis, Catherine, Grover, Cliff, Mariscalco, Giovanni, Suzuki, Toru, Yasbeck, Amy, Barwell, Julian, English, Karen, Robertson, Noelle, Cotton, Anne, Gunn, Sarah, McKay, Victoria, Oo, Aung, Osio, Deborah, Shannon, Nora, Sharif, Saba, Wheeldon, Nigel, Sayers, Rob, Owens, Gareth, Sweeting, Michael, Brookes, Cassandra, Kumar, Tracy, Lai, Florence, Murphy, Gavin

المصدر: Trials ; volume 21, issue 1 ; ISSN 1745-6215

مصطلحات موضوعية: Pharmacology (medical), Medicine (miscellaneous)

الإتاحة: https://doi.org/10.1186/s13063-020-04562-1Test

المؤلفون: McKay, Victoria, Hannan, Katrina, Roberts, Gehan

المصدر: Journal of Paediatrics and Child Health ; volume 55, issue 8, page 999-1000 ; ISSN 1034-4810 1440-1754

الإتاحة: https://doi.org/10.1111/jpc.14533Test

المؤلفون: Hamilton, Mark J., Caswell, Richard C., Canham, Natalie, Cole, Trevor, Firth, Helen V., Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo Mi, Robert, Leema, Rustad, Cecilie F., Wakeling, Emma, Wilkie, Andrew O.M., Twigg, Stephen R.F., Suri, Mohnish

المصدر: Hamilton , M J , Caswell , R C , Canham , N , Cole , T , Firth , H V , Foulds , N , Heimdal , K , Hobson , E , Houge , G , Joss , S , Kumar , D , Lampe , A K , Maystadt , I , McKay , V , Metcalfe , K , Newbury-Ecob , R , Park , S M , Robert , L , Rustad , C F , Wakeling , E , Wilkie , A O M , Twigg , S R F & Suri ....

العلاقة: https://research.manchester.ac.uk/en/publications/c047dda5-4066-45d6-a5e3-09b7df383eb5Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-104620Test
https://research.manchester.ac.uk/en/publications/c047dda5-4066-45d6-a5e3-09b7df383eb5Test
http://www.scopus.com/inward/record.url?scp=85041698967&partnerID=8YFLogxKTest