Resultados de procura - Adam C. Gunning

  • Mostrando 1 - 7 Resultados de 7
Limitar resultados
  1. 1
    Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

    Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory por Richard Caswell, Adam C. Gunning, Martina Owens, Sian Ellard, Caroline F. Wright

    Publicado 2022
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  2. 2
    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 por Chey Loveday, Katherine Josephs, Daniel Chubb, Adam C. Gunning, Louise Izatt, Marc Tischkowitz, Sian Ellard, Clare Turnbull

    Publicado 2018
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  3. 3
    Assessing performance of pathogenicity predictors using clinically relevant variant datasets

    Assessing performance of pathogenicity predictors using clinically relevant variant datasets por Adam C. Gunning, Verity Fryer, James Fasham, Andrew H. Crosby, Sian Ellard, Emma L. Baple, Caroline F. Wright

    Publicado 2020
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  4. 4
    Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

    Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance por Htoo A. Wai, Jenny Lord, Matthew Lyon, Adam C. Gunning, Hugh Kelly, Penelope Cibin, Eleanor G. Seaby, Kerry Spiers-Fitzgerald, Jed J. Lye, Sian Ellard, N. Simon Thomas, David J. Bunyan, Andrew G. L. Douglas, Diana Baralle

    Publicado 2020
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  5. 5
    Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

    Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism por Adam C. Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen Stals, Romina Durigon, Karina Durlacher-Betzer, Mitch Cunningham, Christopher M. Grochowski, Júlia Baptista, Carolyn Tysoe, Emma L. Baple, Nayana Lahiri, Tessa Homfray, Ingrid Scurr, Catherine Armstrong, John Dean, Uxoa Fernández‐Pelayo, Aleck W.E. Jones, Robert W. Taylor, Vinod K. Misra, Wan Hee Yoon, Caroline F. Wright, James R. Lupski, Antonella Spinazzola, Tamar Harel, Ian Holt, Sian Ellard

    Publicado 2020
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  6. 6
    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing por Karen Stals, Matthew N. Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela F. Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E. Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury‐Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D. Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L. Baple, Sian Ellard

    Publicado 2017
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  7. 7
    Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

    Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases por Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Vida Baratang, Praveen K. Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lāce, Justine Rousseau, Norbert Fonya Ajeawung, Atsushi Kamei, Gaku Minase, Manami Akasaka, Nami Araya, Eriko Koshimizu, Jenneke van den Ende, Florian Erger, Janine Altmüller, Zita Krūmiņa, Jurgis Strautmanis, Inna Inashkina, Janis Stavusis, Areeg El‐Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C. Verma, Esther M. Maier, Tobias B. Haack, Anil Israni, Júlia Baptista, Adam C. Gunning, Jill A. Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais Hashem, Hesham Aldhalaan, Fowzan S. Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter Krawitz, Elsa Rossignol, Taroh Kinoshita, Philippe M. Campeau

    Publicado 2019
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:

Ferramentas de procura: