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Wyświetlanie 1-20 z 212
Tytuł:
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Autorzy:
Sullivan, Patricia J.
Gayevskiy, Velimir
Davis, Ryan L.
Wong, Marie
Mayoh, Chelsea
Mallawaarachchi, Amali
Hort, Yvonne
McCabe, Mark J.
Beecroft, Sarah
Jackson, Matilda R.
Arts, Peer
Dubowsky, Andrew
Laing, Nigel
Dinger, Marcel E.
Scott, Hamish S.
Oates, Emily
Pinese, Mark
Cowley, Mark J.
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Źródło:
Genome Biology; December 2023, Vol. 24 Issue: 1
Periodyk
Szczegóły
Tytuł:
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer
Autorzy:
Mayoh, ChelseaAff1, Aff2, Aff3
Gifford, Andrew J.Aff1, Aff2, Aff4
Terry, RachaelAff1, Aff2
Lau, Loretta M. S.Aff1, Aff2, Aff5
Wong, MarieAff1, Aff2
Rao, Padmashree
Shai-Hee, Tyler
Saletta, Federica
Khuong-Quang, Dong-AnhAff6, Aff7
Qin, VickyAff8, Aff9
Mateos, Marion K.Aff1, Aff2, Aff5
Meyran, DeborahAff8, Aff9
Miller, Katherine E.Aff10, Aff11
Yuksel, Aysen
Mould, Emily V. A.
Bowen-James, RachelAff1, Aff13, Aff14
Govender, Dinisha
Senapati, Akanksha
Zhukova, NataliyaAff16, Aff17, Aff18
Omer, NatachaAff19, Aff20
Dholaria, HetalAff21, Aff22
Alvaro, Frank
Tapp, Heather
Diamond, YonatanAff5, Aff6
Pozza, Luciano Dalla
Moore, Andrew S.Aff19, Aff25
Nicholls, WayneAff19, Aff26
Gottardo, Nicholas G.Aff21, Aff22
McCowage, Geoffrey
Hansford, Jordan R.Aff24, Aff27
Khaw, Seong-LinAff6, Aff7
Wood, Paul J.Aff16, Aff17, Aff18
Catchpoole, Daniel
Cottrell, Catherine E.Aff10, Aff11, Aff28
Mardis, Elaine R.Aff10, Aff11, Aff29
Marshall, Glenn M.Aff1, Aff2, Aff5
Tyrrell, VanessaAff1, Aff2
Haber, MichelleAff1, Aff2
Ziegler, David S.Aff1, Aff2, Aff5
Vittorio, OrazioAff1, Aff2
Trapani, Joseph A.Aff8, Aff9
Cowley, Mark J.Aff1, Aff2
Neeson, Paul J.Aff8, Aff9
Ekert, Paul G.Aff1, Aff2, Aff7, Aff8, Aff9, IDs1307302301170x_cor44
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Źródło:
Genome Medicine. 15(1)
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes
Autorzy:
Ajuyah, Pamela
Mayoh, ChelseaAff1, Aff2, Aff3
Lau, Loretta M. S.Aff1, Aff2, Aff3, Aff4
Barahona, Paulette
Wong, MarieAff1, Aff2, Aff3
Chambers, Hazel
Valdes-Mora, FatimaAff1, Aff2
Senapati, Akanksha
Gifford, Andrew J.Aff1, Aff2, Aff6
D’Arcy, Colleen
Hansford, Jordan R.Aff7, Aff8, Aff9, Aff10, Aff11, Aff12, Aff13
Manoharan, NeevikaAff2, Aff4
Nicholls, Wayne
Williams, Molly M.
Wood, Paul J.
Cowley, Mark J.Aff1, Aff2, Aff3
Tyrrell, VanessaAff1, Aff2
Haber, MichelleAff1, Aff2, Aff3
Ekert, Paul G.Aff1, Aff2, Aff3, Aff16, Aff17
Ziegler, David S.Aff1, Aff2, Aff3, Aff4, IDs41598023303954_cor20
Khuong-Quang, Dong-AnhAff7, Aff8, IDs41598023303954_cor21
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Źródło:
Scientific Reports. 13(1)
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Parents' expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial.
Autorzy:
McGill, Brittany C. (AUTHOR)
Wakefield, Claire E. (AUTHOR)
Tucker, Katherine M. (AUTHOR)
Daly, Rebecca A. (AUTHOR)
Donoghoe, Mark W. (AUTHOR)
Vetsch, Janine (AUTHOR)
Warby, Meera (AUTHOR)
Fuentes‐Bolanos, Noemi A. (AUTHOR)
Barlow‐Stewart, Kristine (AUTHOR)
Kirk, Judy (AUTHOR)
Courtney, Eliza (AUTHOR)
O'Brien, Tracey A. (AUTHOR)
Marshall, Glenn M. (AUTHOR)
Pinese, Mark (AUTHOR)
Cowley, Mark J. (AUTHOR)
Tyrrell, Vanessa (AUTHOR)
Deyell, Rebecca J. (AUTHOR)
Ziegler, David S. (AUTHOR)
Hetherington, Kate (AUTHOR)
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Źródło:
Cancer (0008543X). Nov2023, Vol. 129 Issue 22, p3620-3632. 13p.
Czasopismo naukowe
Szczegóły
Tytuł:
Precision Medicine Is Changing the Roles of Healthcare Professionals, Scientists, and Research Staff: Learnings from a Childhood Cancer Precision Medicine Trial.
Autorzy:
Daly, Rebecca (AUTHOR)
Hetherington, Kate (AUTHOR)
Hazell, Emily (AUTHOR)
Wadling, Bethany R. (AUTHOR)
Tyrrell, Vanessa (AUTHOR)
Tucker, Katherine M. (AUTHOR)
Marshall, Glenn M. (AUTHOR)
Ziegler, David S. (AUTHOR)
Lau, Loretta M. S. (AUTHOR)
Trahair, Toby N. (AUTHOR)
O'Brien, Tracey A. (AUTHOR)
Collins, Kiri (AUTHOR)
Gifford, Andrew J. (AUTHOR)
Haber, Michelle (AUTHOR)
Pinese, Mark (AUTHOR)
Malkin, David (AUTHOR)
Cowley, Mark J. (AUTHOR)
Karpelowsky, Jonathan (AUTHOR)
Drew, Donna (AUTHOR)
Jacobs, Chris (AUTHOR)
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Źródło:
Journal of Personalized Medicine. Jul2023, Vol. 13 Issue 7, p1033. 13p.
Czasopismo naukowe
Szczegóły
Tytuł:
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy.
Autorzy:
Rius, Rocio
Bennett, Neal K.
Bhattacharya, Kaustuv
Riley, Lisa G.
Yüksel, Zafer
Formosa, Luke E.
Compton, Alison G.
Dale, Russell C.
Cowley, Mark J.
Gayevskiy, Velimir
Al Tala, Saeed M.
Almehery, Abdulrahman A.
Ryan, Michael T.
Thorburn, David R.
Nakamura, Ken
Christodoulou, John
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Źródło:
Human Mutation; Dec2022, Vol. 43 Issue 12, p1970-1978, 9p
Czasopismo naukowe
Szczegóły
Tytuł:
RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).
Autorzy:
Rehn J; Blood Cancer Program, Precision Cancer Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.; Faculty of Health and Medical Science, University of Adelaide, Adelaide, South Australia, Australia.
Mayoh C; Children's Cancer Institute, Kensington, New South Wales, Australia.; School of Clinical Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
Heatley SL; Blood Cancer Program, Precision Cancer Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.; Faculty of Health and Medical Science, University of Adelaide, Adelaide, South Australia, Australia.; Australian and New Zealand Children's Oncology Group (ANZCHOG), Clayton, Victoria, Australia.
McClure BJ; Blood Cancer Program, Precision Cancer Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.; Faculty of Health and Medical Science, University of Adelaide, Adelaide, South Australia, Australia.
Eadie LN; Blood Cancer Program, Precision Cancer Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.; Faculty of Health and Medical Science, University of Adelaide, Adelaide, South Australia, Australia.
Schutz C; Blood Cancer Program, Precision Cancer Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.
Yeung DT; Blood Cancer Program, Precision Cancer Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.; Faculty of Health and Medical Science, University of Adelaide, Adelaide, South Australia, Australia.; Department of Haematology, Royal Adelaide Hospital and SA Pathology, Adelaide, South Australia, Australia.
Cowley MJ; Children's Cancer Institute, Kensington, New South Wales, Australia.; School of Clinical Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
Breen J; Black Ochre Data Labs, Telethon Kids Institute, Adelaide, South Australia, Australia.; Australian National University, Canberra, Australian Capital Territory, Australia.
White DL; Blood Cancer Program, Precision Cancer Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.; Faculty of Health and Medical Science, University of Adelaide, Adelaide, South Australia, Australia.; Australian and New Zealand Children's Oncology Group (ANZCHOG), Clayton, Victoria, Australia.; Australian Genomics Health Alliance (AGHA), Parkville, Victoria, Australia.; Faculty of Sciences, University of Adelaide, Adelaide, South Australia, Australia.
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Źródło:
PLoS genetics [PLoS Genet] 2022 Oct 17; Vol. 18 (10), pp. e1010300. Date of Electronic Publication: 2022 Oct 17 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA*
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics
Humans ; RNA-Seq ; Australia ; Genomics/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Autorzy:
Rudaks, Laura I.
Watson, Eloise
Oboudiyat, Carly
Kumar, Kishore R.
Sullivan, Patricia
Cowley, Mark J.
Davis, Ryan L.
Sue, Carolyn M.
Pokaż więcej
Źródło:
American Journal of Medical Genetics. Part A; Jul2022, Vol. 188 Issue 7, p2226-2230, 5p
Czasopismo naukowe
Szczegóły
Tytuł:
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
Autorzy:
Nash, Benjamin M.
Ma, Alan
Ho, Gladys
Farnsworth, Elizabeth
Minoche, Andre E.
Cowley, Mark J.
Barnett, Christopher
Smith, Janine M.
Loi, To Ha
Wong, Karen
St Heaps, Luke
Wright, Dale
Dinger, Marcel E.
Bennetts, Bruce
Grigg, John R.
Jamieson, Robyn V.
Pokaż więcej
Temat:
WHOLE genome sequencing
RETINAL degeneration
NON-coding RNA
MOLECULAR diagnosis
FUNCTIONAL genomics
GENE targeting
Źródło:
International Journal of Molecular Sciences; Apr2022, Vol. 23 Issue 7, p3905-N.PAG, 17p
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Autorzy:
Minoche, Andre E.Aff1, Aff2
Lundie, Ben
Peters, Greg B.
Ohnesorg, ThomasAff1, Aff4
Pinese, MarkAff5, Aff6
Thomas, David M.Aff2, Aff7
Zankl, AndreasAff1, Aff8, Aff9
Roscioli, TonyAff10, Aff11, Aff12, Aff13
Schonrock, NicoleAff1, Aff4
Kummerfeld, SarahAff1, Aff2
Burnett, LeslieAff1, Aff2, Aff4, Aff9
Dinger, Marcel E.Aff1, Aff14
Cowley, Mark J.Aff1, Aff2, Aff5, Aff6
Pokaż więcej
Źródło:
Genome Medicine. 13(1)
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Efficacy of MEK inhibition in a recurrent malignant peripheral nerve sheath tumor
Autorzy:
Nagabushan, SumanthAff1, Aff2
Lau, Loretta M. S.Aff1, Aff2, Aff3
Barahona, Paulette
Wong, MarieAff2, Aff3
Sherstyuk, Alexandra
Marshall, Glenn M.Aff1, Aff2, Aff3
Tyrrell, Vanessa
Wegner, Eva A.Aff4, Aff5
Ekert, Paul G.Aff2, Aff3
Cowley, Mark J.Aff2, Aff3
Mayoh, ChelseaAff2, Aff3
Trahair, Toby N.Aff1, Aff2, Aff3
Crowe, PhilipAff5, Aff6, Aff7
Anazodo, AntoinetteAff1, Aff2, Aff6
Ziegler, David S.Aff1, Aff2, Aff3, IDs41698021001458_cor15
Pokaż więcej
Źródło:
npj Precision Oncology. 5(1)
Czasopismo naukowe
Szczegóły
Tytuł:
Molecular patterns in salivary duct carcinoma identify prognostic subgroups.
Autorzy:
Mueller, Simon A. (AUTHOR)
Gauthier, Marie-Emilie A. (AUTHOR)
Blackburn, James (AUTHOR)
Grady, John P. (AUTHOR)
Kratisek, Spiridoula (AUTHOR)
Dettmer, Matthias S. (AUTHOR)
Dahlstrom, Jane E. (AUTHOR)
Lee, C. Soon (AUTHOR)
Luk, Peter (AUTHOR)
Yu, Bing (AUTHOR)
Giger, Roland (AUTHOR)
Kummerfeld, Sarah (AUTHOR)
Clark, Jonathan (AUTHOR)
Gupta, Ruta (AUTHOR)
Cowley, Mark J. (AUTHOR)
Pokaż więcej
Źródło:
Oral Oncology. 2021 Supplement, Vol. 118, p4-4. 1p.
Czasopismo naukowe
Szczegóły
Tytuł:
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.
Autorzy:
Field, Michael J.
Kumar, Raman
Hackett, Anna
Kayumi, Sayaka
Shoubridge, Cheryl A.
Ewans, Lisa J.
Ivancevic, Atma M.
Dudding‐Byth, Tracy
Carroll, Renée
Kroes, Thessa
Gardner, Alison E.
Sullivan, Patricia
Ha, Thuong T.
Schwartz, Charles E.
Cowley, Mark J.
Dinger, Marcel E.
Palmer, Elizabeth E.
Christie, Louise
Shaw, Marie
Roscioli, Tony
Pokaż więcej
Źródło:
Human Mutation; Jul2021, Vol. 42 Issue 7, p835-847, 13p
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 212

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