Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain von Cross, Esther, Duncan‐Flavell, Philippa J., Howarth, Rachel J., Hobbs, James I., Thomas, Nicholas Simon, Bunyan, David J.

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Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility von Bunyan, David J, Saran, Mili, Hobbs, James I, Anderson, David J, J. Duncan-Flavell, Philippa, Howarth, Rachel J, Callaway, Jonathan L.A, MacPherson, James N

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A methodology for enterprise-wide risk assessment in small banks and credit union von Duncan, Philippa

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Rare dosage abnormalities flanking the SHOX gene von Bunyan, David J, Gevers, Evelien, Hobbs, James I, Duncan-Flavell, Philippa J, Howarth, Rachel J, Holder-Espinasse, Muriel, Klee, Philippe

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Isolating small Belize banks from the global system von Duncan, Philippa

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SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts von Bunyan, David J, Hobbs, James I, Duncan-Flavell, Philippa J, Howarth, Rachel J, Beal, Sarah, Baralle, Diana, Thomas, Nicholas Simon

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SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts von Bunyan, David J, Hobbs, James I., Duncan-Flavell, Philippa J., Howarth, Rachel J, Beal, Sarah, Baralle, Diana, Thomas, Nicholas Simon

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Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains von Cross, Esther, Duncan-Flavell, Philippa J., Howarth, Rachel J., Crooks, Richard O., Thomas, N. Simon, Bunyan, David J.

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Gender Diversity: An Analysis of Belize Banks von Duncan, Philippa S.

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Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6 von Castori, Marco, Barboni, Luana, Duncan, Philippa J., Paradisi, Mauro, Laino, Luigi, De Bernardo, Carmelilia, Robinson, David O., Grammatico, Paola

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Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities von Bateman, Mark S., Collinson, Morag N., Bunyan, David J., Collins, Amanda L., Duncan, Philippa, Firth, Rachel, Harrison, Victoria, Homfray, Tessa, Huang, Shuwen, Kirk, Beth, Lachlan, Katherine L., Maloney, Viv K., Barber, John C. K.

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Screening of a largeRubinstein-Taybicohort identified many novel variants and emphasizes the importance of theCREBBPhistoneacetyltransferasedomain von Cross, Esther, Duncan-Flavell, Philippa J., Howarth, Rachel J., Hobbs, James, Thomas, Nicholas Simon, Bunyan, David J.

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Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis von Pigatto, Francesca, Bateman, Adrian, Bunyan, David, Strike, Paul, Wilkins, Esta, Curtis, Claire, Duncan, Philippa, May, Denzil, Nugent, Karen, Eccles, Diana

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A Novel Missense Mutation in Dax-1 with an Unusual Presentation of X-Linked Adrenal Hypoplasia Congenita von Ahmad, Imran, Paterson, Wendy F., Lin, Lin, Adlard, Peter, Duncan, Philippa, Tolmie, John, Achermann, John C., Donaldson, Malcolm D.C.

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Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6 von Castori, Marco, Barboni, Luana, Duncan, Philippa J., Paradisi, Mauro, Laino, Luigi, De Bernardo, Carmelilia, Robinson, David O., Grammatico, Paola

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Effects of Regular Physical Activity on the Immune System, Vaccination and Risk of Community-Acquired Infectious Disease in the General Population: Systematic Review and Meta-Analy... von Chastin, Sebastien F. M., Abaraogu, Ukachukwu, Bourgois, Jan G., Dall, Philippa M., Darnborough, Jennifer, Duncan, Elaine, Dumortier, Jasmien, Pavón, David Jiménez, McParland, Joanna, Roberts, Nicola J., Hamer, Mark

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Transforming Growth Factor-β Induced Warburg-Like Metabolic Reprogramming May Underpin the Development of Peritoneal Endometriosis von Young, Vicky J, Brown, Jeremy K, Maybin, Jacqueline, Saunders, Philippa T. K, Duncan, W. Colin, Horne, Andrew W

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The peritoneum is both a source and target of TGF-β in women with endometriosis von Young, Vicky J, Brown, Jeremy K, Saunders, Philippa T K, Duncan, W Colin, Horne, Andrew W

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Effect of Delta variant on viral burden and vaccine effectiveness against new SARS-CoV-2 infections in the UK von Pouwels, Koen B., Pritchard, Emma, Matthews, Philippa C., Stoesser, Nicole, Eyre, David W., Vihta, Karina-Doris, House, Thomas, Hay, Jodie, Bell, John I., Newton, John N., Farrar, Jeremy, Crook, Derrick, Cook, Duncan, Rourke, Emma, Studley, Ruth, Peto, Tim E. A., Diamond, Ian, Walker, A. Sarah

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Compositional Analysis of the Associations between 24-h Movement Behaviours and Health Indicators among Adults and Older Adults from the Canadian Health Measure Survey von McGregor, Duncan E, Carson, Valerie, Palarea-Albaladejo, Javier, Dall, Philippa M, Tremblay, Mark S, Chastin, Sebastien F M

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