Search Results - Andrew Parrish

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  1. 1
    Performance of symptom-based tuberculosis screening among people living with HIV

    Performance of symptom-based tuberculosis screening among people living with HIV by Faiz Ahmad Khan, Sabine Verkuijl, Andrew Parrish, Fadzai Chikwava, Raphael Ntumy, Wafaa El‐Sadr, Andrea A. Howard

    Published 2014
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  2. 2
    Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects

    Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects by Sian Ellard, Sarah E. Flanagan, Christophe A. Girard, Ann‐Marie Patch, Lorna W. Harries, Andrew Parrish, Emma L. Edghill, Deborah Mackay, Peter Proks, Kenju Shimomura, Holger Haberland, D. J. Carson, Julian Hamilton‐Shield, Andrew T. Hattersley, Frances M. Ashcroft

    Published 2007
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  3. 3
    Insulin Mutation Screening in 1,044 Patients With Diabetes

    Insulin Mutation Screening in 1,044 Patients With Diabetes by Emma L. Edghill, Sarah E. Flanagan, Ann‐Marie Patch, Chris Boustred, Andrew Parrish, Beverley Shields, Maggie Shepherd, Khalid Hussain, Ritika R. Kapoor, Maciej T. Małecki, Michael J. MacDonald, Julie Støy, Donald F. Steiner, Louis H. Philipson, Graeme I. Bell, Andrew T. Hattersley, Sian Ellard

    Published 2007
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  4. 4
    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 by 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

    Published 2020
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  5. 5
    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 by 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

    Published 2017
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  6. 6
    WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

    WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome by Janson J. White, Juliana F. Mazzeu, Zeynep Coban‐Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W.M. van Bon, Alper Gezdirici, Elif Yılmaz Güleç, Francis Ramond, Renaud Touraine, Julien Thévenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover‐Fong, Ceren Damla Durmaz, Halil Gürhan Karabulut, Ebru Marzioğlu Özdemir, Atilla Çayır, Mehmet Buğrahan Düz, Mehmet Seven, Susan Price, Bárbara Merfort Ferreira, Angela Maria Vianna‐Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N. Jhangiani, Richard A. Gibbs, Han G. Brunner, V. Reid Sutton, James R. Lupski, Claudia M.B. Carvalho

    Published 2017
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  7. 7
    Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

    Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 by Óscar Rubio Cabezas, Sarah E. Flanagan, Horia Stanescu, Elena García‐Martínez, Richard Caswell, Hana Lango Allen, Montserrat Antón-Gamero, Jesús Argente, Anna-Marie Bussell, André W. Brändli, Chris Cheshire, Elizabeth Crowne, Simona Dumitriu, Robert Drynda, Julian Hamilton‐Shield, Wesley Hayes, Alexis Hofherr, Daniela Iancu, Naomi Issler, Craig Jefferies, Peter M. Jones, Matthew B. Johnson, Anne Kesselheim, Enriko Klootwijk, M Koettgen, Wendy Lewis, José María Martos, Monika Mozere, Jill T. Norman, Vaksha Patel, Andrew Parrish, Celia Pérez‐Cerdá, Jesús Pozo, Sofia Rahman, Neil J. Sebire, Mehmet Tekman, Peter D. Turnpenny, William van’t Hoff, Daan H.H.M. Viering, Michael N. Weedon, Patricia D. Wilson, Lisa M. Guay‐Woodford, Robert Kleta, Khalid Hussain, Sian Ellard, Detlef Böckenhauer

    Published 2017
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