खोज परिणाम - Louise Izatt

परिणाम को परिष्कृत करें
  1. 1
    p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

    p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer द्वारा Chey Loveday, Katherine Josephs, Daniel Chubb, Adam C. Gunning, Louise Izatt, Marc Tischkowitz, Sian Ellard, Clare Turnbull

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  2. 2
    UKCGG Consensus Group guidelines for the management of patients with constitutional <i>TP53</i> pathogenic variants

    UKCGG Consensus Group guidelines for the management of patients with constitutional <i>TP53</i> pathogenic variants द्वारा Helen Hanson, Angela F. Brady, Gillian Crawford, Rosalind A. Eeles, S. L. Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, D. Gareth Evans

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  3. 3
    Paediatric differentiated thyroid carcinoma: a UK National Clinical Practice Consensus Guideline

    Paediatric differentiated thyroid carcinoma: a UK National Clinical Practice Consensus Guideline द्वारा Sasha Howard, Sarah Freeston, Barney Harrison, Louise Izatt, Sonali Natu, Kate Newbold, Sabine Pomplun, Helen Spoudeas, Sophie Wilne, Tom Kurzawinski, Mark N. Gaze

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  4. 4
    The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

    The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services द्वारा D. Gareth Evans, Julian Barwell, Diana Eccles, Amanda Collins, Louise Izatt, Chris Jacobs, Alan C. Donaldson, Angela F. Brady, Andrew Cuthbert, Rachel Harrison, Sue Thomas, Anthony Howell, Zosia Miedzybrodzka, Alex Murray

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  5. 5
    Society for Endocrinology <scp>UK</scp> guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)

    Society for Endocrinology <scp>UK</scp> guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015) द्वारा S. Faisal Ahmed, John C. Achermann, Wiebke Arlt, Adam Balen, Gerry Conway, Zoe Edwards, Sue Elford, Ieuan A. Hughes, Louise Izatt, Nils Krone, Harriet Miles, Stuart O’Toole, Les Perry, Caroline Sanders, Margaret Simmonds, Andrew Watt, Debbie Willis

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Carta
    सूची में सहेजें
    में बचाया:
  6. 6
    UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

    UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development द्वारा S. Faisal Ahmed, John C. Achermann, Wiebke Arlt, Adam Balen, Gerry Conway, Zoe Edwards, Sue Elford, Ieuan A. Hughes, Louise Izatt, Nils Krone, Harriet Miles, Stuart O’Toole, Les Perry, Caroline Sanders, Margaret Simmonds, Andrew Wallace, Andrew Watt, Debbie Willis

    प्रकाशित 2011
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  7. 7
    Large Genomic Deletions in<i>AIP</i>in Pituitary Adenoma Predisposition

    Large Genomic Deletions in<i>AIP</i>in Pituitary Adenoma Predisposition द्वारा Marianthi Georgitsi, Elina Heliövaara, Ralf Paschke, Ajith Kumar, Marc Tischkowitz, Outi Vierimaa, Pasi Salmela, Timo Sane, Ernesto De Menis, Salvatore Cannavò, Sadi Gündoğdu, Anneke Lucassen, Louise Izatt, Simon Aylwin, Gul Bano, Shirley Hodgson, Christian A. Koch, Auli Karhu, Lauri A. Aaltonen

    प्रकाशित 2008
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  8. 8
    2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma

    2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma द्वारा Chantal A Lebbink, Thera P. Links, Agnieszka Czarniecka, Renuka Dias, Rossella Elisei, Louise Izatt, Heiko Krude, Kerstin Lorenz, Markus Luster, Kate Newbold, Arnoldo Piccardo, Manuel Sobrinho‐Simões, Toru Takano, A.S. Paul van Trotsenburg, Frederik A. Verburg, Hanneke M. van Santen

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  9. 9
    Mammographic Density and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Mammographic Density and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers द्वारा Gillian Mitchell, Antonis C. Antoniou, Ruth Warren, Susan Peock, Judith Brown, R.S.M. Davies, Jenny Mattison, Margaret Cook, Iqbal Warsi, D. Gareth Evans, Diana Eccles, Fiona Douglas, Joan Paterson, Shirley Hodgson, Louise Izatt, Trevor Cole, Lucy Burgess, Rosalind A. Eeles, Douglas F. Easton

    प्रकाशित 2006
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  10. 10
    Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

    Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations द्वारा Maya Lodish, Bo Yuan, Isaac Lévy, Glenn D. Braunstein, Charalampos Lyssikatos, Calvin Ke, Eva Szarek, Alexander S. Karageorgiadis, Elena Belyavskaya, Margarita Raygada, Fábio R. Faucz, Louise Izatt, Caroline Brain, James L. Gardner, Martha Quezado, J. Aidan Carney, James R. Lupski, Constantine A. Stratakis

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  11. 11
    Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol

    Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol द्वारा Miriam Dixon-Zegeye, Rachel Shaw, Linda M. Collins, Kendra Perez-Smith, Alexander Ooms, Maggie Qiao, Pan Pantziarka, Louise Izatt, Marc Tischkowitz, Rachel E. Harrison, Angela George, Emma R. Woodward, Simon Lord, Lara Hawkes, D. Gareth Evans, James Franklin, Helen Hanson, Sarah P. Blagden

    प्रकाशित 2024
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  12. 12
    A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma

    A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma द्वारा Eleanor Rattenberry, Lindsey Vialard, Anna C. Y. Yeung, Hayley Bair, Kirsten McKay, Mariam Jafri, Natalie Canham, Trevor Cole, Judit Dénes, Shirley V. Hodgson, Richard Irving, Louise Izatt, Márta Korbonits, Ajith Kumar, Fiona Lalloo, Patrick J. Morrison, Emma R. Woodward, Fiona MacDonald, Yvonne Wallis, Eamonn R. Maher

    प्रकाशित 2013
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  13. 13
    When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (<i>GNRHR</i>)

    When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (<i>GNRHR</i>) द्वारा Elena Gianetti, Janet E. Hall, Margaret Au, Ursula B. Kaiser, Richard Quinton, Jane A. Stewart, Daniel L. Metzger, Nelly Pitteloud, Verónica Mericq, Paulina M. Merino, Lynne L. Levitsky, Louise Izatt, Mariarosaria Lang‐Muritano, Victor Y. Fujimoto, Robert G. Dluhy, Matthew Chase, William F. Crowley, Lacey Plummer, Stephanie B. Seminara

    प्रकाशित 2012
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  14. 14
    Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia

    Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia द्वारा Marianthi Georgitsi, Anniina Raitila, Auli Karhu, Rob B. van der Luijt, Cora M. Aalfs, Timo Sane, Outi Vierimaa, Markus J. Mäkinen, Karoliina Tuppurainen, R Paschke, Oliver Gimm, Christian A. Koch, Sadi Gündoğdu, Anneke Lucassen, Marc Tischkowitz, Louise Izatt, Simon Aylwin, Gul Bano, Shirley Hodgson, Ernesto De Menis, Virpi Launonen, Pia Vahteristo, Lauri A. Aaltonen

    प्रकाशित 2007
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  15. 15
    <scp>SDHA</scp> related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

    <scp>SDHA</scp> related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity द्वारा Ruth Casey, David B. Ascher, Eleanor Rattenberry, Louise Izatt, Katrina Andrews, Helen Simpson, Benjamen G Challis, Soo‐Mi Park, V.R. Bulusu, Fiona Lalloo, Douglas E. V. Pires, Hannah D. West, Graeme R. Clark, Philip Smith, James W. Whitworth, Thomas Papathomas, Phillipe Taniere, Rosina Savisaar, Laurence D. Hurst, Emma R. Woodward, Eamonn R. Maher

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  16. 16
    Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

    Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network द्वारा Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Çubuk, Mary Alikian, George J. Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian Berry, James Drummond, Andrew Wallace, Gail Norbury, Diana Eccles, Sian Ellard, Fiona Lalloo, D. Gareth Evans, Emma R. Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  17. 17
    Quantification of sequence exchange events between<i>PMS2</i>and<i>PMS2CL</i>provides a basis for improved mutation scanning of Lynch syndrome patients

    Quantification of sequence exchange events between<i>PMS2</i>and<i>PMS2CL</i>provides a basis for improved mutation scanning of Lynch syndrome patients द्वारा Heleen M. van der Klift, Carli M.J. Tops, Elsa C. Bik, Merel W. Boogaard, Anne-Marijke Borgstein, Kerstin Hansson, Margreet G.E.M. Ausems, E. Gómez, Andrew Green, Frederik J. Hes, Louise Izatt, Liselotte P. van Hest, Ángel Alonso, A. H. J. T. Vriends, Anja Wagner, Wendy A.G. van Zelst–Stams, Hans F. A. Vasen, Hans Morreau, Peter Devilee, Juul Wijnen

    प्रकाशित 2010
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  18. 18
    Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in<i>SDHB</i>and<i>SDHD</i>

    Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in<i>SDHB</i>and<i>SDHD</i> द्वारा Christopher J. Ricketts, Julia Forman, Eleanor Rattenberry, Nicola Bradshaw, Fiona Lalloo, Louise Izatt, Trevor Cole, Ruth Armstrong, V K Ajith Kumar, Patrick J. Morrison, A. Brew Atkinson, Fiona Douglas, Steve Ball, Jackie Cook, Umasuthan Srirangalingam, Pip Killick, Gail Kirby, Simon Aylwin, Emma R. Woodward, D. Gareth Evans, Shirley V. Hodgson, V Murday, Shern L. Chew, John Connell, Tom L. Blundell, Fiona MacDonald, Eamonn R. Maher

    प्रकाशित 2009
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  19. 19
    Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

    Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma a... द्वारा Mariam Jafri, James W. Whitworth, Eleanor Rattenberry, Lindsey Vialard, Gail Kilby, Ajith Kumar, Louise Izatt, Fiona Lalloo, Paul Brennan, Jackie Cook, Patrick J. Morrison, Natalie Canham, Ruth Armstrong, Carole Brewer, Susan Tomkins, Alan Donaldson, Julian Barwell, Trevor Cole, A. Brew Atkinson, Simon Aylwin, Steve Ball, Umasuthan Srirangalingam, Shern L. Chew, D. Gareth Evans, Shirley V. Hodgson, Richard Irving, Emma R. Woodward, Fiona MacDonald, Eamonn R. Maher

    प्रकाशित 2012
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  20. 20
    Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

    Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis द्वारा Stephen R.F. Twigg, Elena Vorgia, Simon J. McGowan, Ioanna Peraki, Aimée L Fenwick, Vikram Sharma, Maryline Allégra, Ανδρέας Ζαραγκούλιας, Elham Sadighi Akha, Samantha J.L. Knight, Helen Lord, Tracy Lester, Louise Izatt, Anne Katrin Lampe, Shehla Mohammed, Fiona J. Stewart, Alain Verloès, Louise C. Wilson, Chris Healy, Paul T. Sharpe, Peter Hammond, Jim R. Hughes, Stephen Taylor, David Johnson, Steven A. Wall, George Mavrothalassitis, Andrew O.M. Wilkie

    प्रकाशित 2013
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:

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