Search Results - Emma McCann

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  1. 1
    “Objectively terrifying”: a qualitative study of youth’s experiences of transitions out of child and adolescent mental health services at age 18

    “Objectively terrifying”: a qualitative study of youth’s experiences of transitions out of child and adolescent mental health services at age 18 by Kristin Cleverley, Lindsey Lenters, Emma McCann

    Published 2020
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  2. 2
    Targeting cancer-cell mitochondria and metabolism to improve radiotherapy response

    Targeting cancer-cell mitochondria and metabolism to improve radiotherapy response by Emma McCann, Jacintha O’Sullivan, Simone Marcone

    Published 2020
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  3. 3
    Current evidence-based recommendations on investigating children with global developmental delay

    Current evidence-based recommendations on investigating children with global developmental delay by R. Mithyantha, Rachel Kneen, Emma McCann, Melissa Gladstone

    Published 2017
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  4. 4
    Frameworks Used to Engage Postsecondary Students in Campus Mental Health Research: A Scoping Review

    Frameworks Used to Engage Postsecondary Students in Campus Mental Health Research: A Scoping Review by Kristin Cleverley, Soha Salman, Julia Davies, Lexi Ewing, Emma McCann, Katherine Sainsbury, Mikaela Gray, Carrie Lau, Orly Lipsitz, Sapolnach Prompiengchai

    Published 2025
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  5. 5
    BCL11B-related disease: a single phenotypic entity?

    BCL11B-related disease: a single phenotypic entity? by Juliana Heather Vedovato dos Santos, Rebecca S Tooze, Sivagamy Sithambaram, Emma McCann, Yasemin Alanay, Özlem Doğan, Meltem Kilercik, Ayşen Bingöl, M. Memet Özek, David H. Johnson, Christoffer Nellåker, Andrew O.M. Wilkie, Stephen R.F. Twigg

    Published 2025
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  6. 6
    Characterization of Monogenic Kidney Disease in Older Patients with CKD

    Characterization of Monogenic Kidney Disease in Older Patients with CKD by Elhussein A. Elhassan, Sarah Cormican, Shohdan M Osman, Sahin Sarihan, Omri Teltsh, F POYNTON, Matthew D. Griffin, Liam Casserly, Emma McCann, Anthony J. Bleyer, Stanislav Kmoch, Martina Živná, Katherine A. Benson, Gianpiero L. Cavalleri, Peter J. Conlon

    Published 2025
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  7. 7
    The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

    The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care by Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, Sumita Danda, Alka V. Ekbote, Solaf M. Elsayed, Louise Gibson, Judith A. Goodship, Andrew P. Jackson, Wee ik Te Keng, Mary D. King, Emma McCann, Toshino Motojima, J. Elliot Murray, Taku Omata, Daniela T. Pilz, Kate Pope, Katsuo Sugita, Susan M. White, Ian Wilson

    Published 2015
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  8. 8
    An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

    An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy by Michael N. Weedon, Sian Ellard, Marc J. Prindle, Richard Caswell, Hana Lango Allen, Richard A. Oram, Koumudi Godbole, Chittaranjan S. Yajnik, Paolo Sbraccia, Giuseppe Novelli, Peter D. Turnpenny, Emma McCann, Kim Jee Goh, Yukai Wang, Jonathan Fulford, Laura McCulloch, David B. Savage, Stephen O’Rahilly, Katarina Kos, Lawrence A. Loeb, Robert K. Semple, Andrew T. Hattersley

    Published 2013
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  9. 9
    Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations

    Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations by Isabel Huang‐Doran, Patsy R Tomlinson, Felicity Payne, Alexandra T. Gast, Alison Sleigh, William Bottomley, J. Ieuan Harris, Allan Daly, Nuno Rocha, Simon A. Rudge, Jonathan Clark, Albert Kwok, Stefano Romeo, Emma McCann, Barbara Müksch, Mehul Dattani, Stefano Zucchini, Michael J.O. Wakelam, Lazaros C. Foukas, David B. Savage, Rinki Murphy, Stephen O’Rahilly, Inês Barroso, Robert K. Semple

    Published 2016
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  10. 10
    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals by Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton‐Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole Motton, Alexandra Murray, Katie Riches, Deborah Shears, Zornitza Stark, Elizabeth Thompson, Julie Vogt, Michael Wright, Trevor Cole, Katrina Tatton‐Brown

    Published 2019
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  11. 11
    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment by Catherine Rodger, Elisabetta Flex, Rachel Allison, Alba Sanchis-Juan, Marcia A. Hasenahuer, Serena Cecchetti, Courtney E. French, James R. Edgar, Giovanna Carpentieri, Andrea Ciolfi, Francesca Pantaleoni, Alessandro Bruselles, Roberta Onesimo, Giuseppe Zampino, Francesca Marcon, Ester Siniscalchi, Melissa Lees, Deepa Krishnakumar, Emma McCann, Dragana Yosifova, Joanna Jarvis, Michael C. Kruer, Warren A. Marks, Jonathan J. Campbell, Louise Allen, Stefano Gustincich, F. Lucy Raymond, Marco Tartaglia, Evan Reid

    Published 2020
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  12. 12
    Pathogenicity and selective constraint on variation near splice sites

    Pathogenicity and selective constraint on variation near splice sites by Jenny Lord, Giuseppe Gallone, Patrick Short, Jeremy F. McRae, Holly Ironfield, Elizabeth Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Diana Johnson, Emma McCann, Esther Kinning, Frances Flinter, I. Karen Temple, Jill Clayton‐Smith, Meriel McEntagart, Sally Ann Lynch, Shelagh Joss, Sofia Douzgou, Tabib Dabir, Virginia Clowes, Vivienne McConnell, Wayne Lam, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles

    Published 2018
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  13. 13
    Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

    Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE by Nasim Mavaddat, Susan Peock, Debra Frost, Ian O. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Louise Izatt, Rosalind A. Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Carole Brewer, Marc Tischkowitz, Fiona Douglas, Shirley Hodgson, Lisa Walker, Mary Porteous, Patrick J. Morrison, Lucy Side, Michael J. Kennedy, Catherine Houghton, Alan Donaldson, Mark T. Rogers, Huw Dorkins, Zosia Miedzybrodzka, Helen Gregory, Jacqueline Eason, Julian Barwell, Emma McCann, Alex Murray, Antonis C. Antoniou, Douglas F. Easton

    Published 2013
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  14. 14
    Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design

    Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design by Jussi‐Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon J. McGowan, David Sims, Meriel McEntagart, Frances Elmslie, Debbie Shears, Helen Stewart, George K. Tofaris, Tabib Dabir, Patrick J. Morrison, Diana Johnson, Marios Hadjivassiliou, Sian Ellard, Charles Shaw‐Smith, Anna Znaczko, Abhijit Dixit, Mohnish Suri, Ajoy Sarkar, Rachel Harrison, Gabriela Jones, Henry Houlden, G Ceravolo, Joanna Jarvis, Jonathan Williams, Morag Shanks, Penny Clouston, Julia Rankin, Lubov Blumkin, Tally Lerman‐Sagie, Penina Ponger, Salmo Raskin, Katariina Granath, Johanna Uusimaa, Hector Conti, Emma McCann, Shelagh Joss, Alexander J. M. Blakes, Kay Metcalfe, Helen Kingston, M. Bertoli, Rachel Kneen, Sally Ann Lynch, Inmaculada Martínez Albaladejo, Austen Peter Moore, Wendy D. Jones, Esther B. E. Becker, Andrea H. Németh

    Published 2023
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  15. 15
    Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

    Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations by Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran, Emma Elson, Joyce Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. Aylsworth, Michael J. Bamshad, Carol Booth, Cynthia J. Curry, Albert David, Mary Beth Dinulos, David B. Flannery, Michelle Fox, John M. Graham, Dorothy K. Grange, Alan E. Guttmacher, Mark C. Hannibal, Wolfram Henn, RaoulC.M. Hennekam, Lewis B. Holmes, H. Eugene Hoyme, Kathleen A. Leppig, Angela E. Lin, Patrick MacLeod, David K. Manchester, Carlo Marcelis, Laura Mazzanti, Emma McCann, Marie McDonald, Nancy J. Mendelsohn, John B. Moeschler, Billur Moghaddam, Giovanni Neri, Ruth Newbury‐Ecob, Roberta A Pagon, John A. Phillips, Laurie S. Sadler, Joan M. Stoler, David Tilstra, Catherine M. Walsh Vockley, Elaine H. Zackai, Touran M. Zadeh, Louise Brueton, Graeme Black, Leslie G. Biesecker

    Published 2005
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  16. 16
    Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

    Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of B... by Anna Marie Mulligan, Fergus J. Couch, Daniel Barrowdale, Susan M. Domchek, Diana Eccles, Heli Nevanlinna, Susan J. Ramus, Mark E. Robson, Mark E. Sherman, Amanda B. Spurdle, Barbara Wappenschmidt, Andrew Lee, Lesley McGuffog, Sue Healey, Olga M. Sinilnikova, Ramūnas Janavičius, Thomas van Overeem Hansen, Finn C. Nielsen, Bent Ejlertsen, Ana Osório, Iván Muñoz‐Repeto, M. Durán, Javier Godino, Maroulio Pertesi, Javier Benítez, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Elisa Cattaneo, Bernardo Bonanni, Alessandra Viel, Barbara Pasini, Laura Papi, Laura Ottini, Antonella Savarese, Loris Bernard, Paolo Radice, Ute Hamann, Martijn Verheus, Hanne Meijers‐Heijboer, Juul Wijnen, E. Gómez, Marcel Nelen, C. Marleen Kets, Caroline Seynaeve, Madeleine M.A. Tilanus‐Linthorst, Rob B. van der Luijt, Theo van Os, Matti A. Rookus, Debra Frost, J. Louise Jones, D. Gareth Evans, Fiona Lalloo, Rosalind A. Eeles, Louise Izatt, Julian Adlard, Rosemarie Davidson, Jackie Cook, Alan Donaldson, Huw Dorkins, Helen Gregory, Jacqueline Eason, Catherine Houghton, Julian Barwell, Lucy Side, Emma McCann, Alex Murray, Susan Peock, Andrew K. Godwin, Rita K. Schmutzler, Kerstin Rhiem, Christoph Engel, Alfons Meindl, I. Ruehl, Norbert Arnold, Dieter Niederacher, Christian Sutter, Helmut Deißler, Dorothea Gadzicki, Karin Kast, Sabine Preisler-Adams, Raymonda Varon-Mateeva, Ines Schoenbuchner, Britta Fiebig, Wolfram Heinritz, Dieter Schäfer, Heidrun Gevensleben, Virginie Caux‐Moncoutier, Marion Fassy-Colcombet, François Cornélis, Sylvie Mazoyer, Mélanie Léoné, Nadia Boutry‐Kryza, Agnès Hardouin, Pascaline Berthet, Danièle Muller, Jean‐Pierre Fricker, Isabelle Mortemousque, Pascal Pujol

    Published 2011
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