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/vufind/Search/Results?lookfor=%22Thomas%2C+Huw%22&type=Person&sort=year
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PubPharm (318)
1
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
enthalten in:
European journal of medical genetics
| 2024
von
Harkness, J.
|
Thomas, H.
|
Urquhart, J.
| +6
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2
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
enthalten in:
Genome medicine
| 2024
von
Dueñas Rey, A.
|
Del Pozo Valero, M.
|
Bouckaert, M.
| +22
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3
Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
enthalten in:
Genome medicine
| 2024
von
Dueñas Rey, A.
|
del Pozo Valero, M.
|
Bouckaert, M.
| +21
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4
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Smith, T.
|
Rea, A.
|
Thomas, H.
| +16
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5
The role of GCNT1 mediated O-glycosylation in aggressive prostate cancer
enthalten in:
Scientific reports
| 2023
von
Hodgson, K.
|
Orozco-Moreno, M.
|
Scott, E.
| +15
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6
Targeting Cytotoxic Agents through EGFR-Mediated Covalent Binding and Release
enthalten in:
Journal of medicinal chemistry
| 2023
von
Morese, P.
|
Anthony, N.
|
Bodnarchuk, M.
| +12
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7
ST6GAL1-mediated aberrant sialylation promotes prostate cancer progression
enthalten in:
The Journal of pathology
| 2023
von
Scott, E.
|
Archer Goode, E.
|
Garnham, R.
| +39
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8
Author Correction : Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair
enthalten in:
Nature communications
| 2023
von
Sherwood, K.
|
Ward, J.
|
Soriano, I.
| +15
ErratumFor: Nat Commun. 2023 Jun 19;14(1):3636. - PMID 37336879
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9
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair
enthalten in:
Nature communications
| 2023
von
Sherwood, K.
|
Ward, J.
|
Soriano, I.
| +15
ErratumIn: Nat Commun. 2023 Jun 28;14(1):3836. - PMID 37380644
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10
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment : a report from the prospective Lynch syndrome database
enthalten in:
EClinicalMedicine
| 2023
von
Dominguez-Valentin, M.
|
Haupt, S.
|
Seppälä, T.
| +98
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Cancer chemotherapy and pharmacology
14
Nature genetics
12
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11
Archives of oral biology
10
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8
Hereditary cancer in clinical practice
8
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Gut
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bioRxiv.org
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Journal of dental education
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13
Lynch syndrome
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EC 2.4.2.30
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