खोज परिणाम - I. Karen Temple

परिणाम को परिष्कृत करें
  1. 1
    Stickler's syndrome.

    Stickler's syndrome. द्वारा I. Karen Temple

    प्रकाशित 1989
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  2. 2
    Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

    Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23 द्वारा I. Karen Temple

    प्रकाशित 1996
    पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  3. 3
    Transient neonatal diabetes, a disorder of imprinting

    Transient neonatal diabetes, a disorder of imprinting द्वारा I. Karen Temple

    प्रकाशित 2002
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  4. 4
    Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

    Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). द्वारा Brian Coppin, I. Karen Temple

    प्रकाशित 1997
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    Artigo
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    में बचाया:
  5. 5
    Human imprinting disorders: Principles, practice, problems and progress

    Human imprinting disorders: Principles, practice, problems and progress द्वारा Deborah Mackay, I. Karen Temple

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें
    Revisão
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    में बचाया:
  6. 6
    Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers

    Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carr... द्वारा Katherine Lachlan, Anneke Lucassen, David J. Bunyan, I. Karen Temple

    प्रकाशित 2007
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    Artigo
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    में बचाया:
  7. 7
    Focal dermal hypoplasia (Goltz syndrome).

    Focal dermal hypoplasia (Goltz syndrome). द्वारा I. Karen Temple, P MacDowall, M Baraitser, David J. Atherton

    प्रकाशित 1990
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  8. 8
    Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

    Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14 द्वारा I. Karen Temple, V Shrubb, Margaret Lever, H. Bullman, Deborah Mackay

    प्रकाशित 2007
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    Artigo
    सूची में सहेजें
    में बचाया:
  9. 9
    Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

    Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases द्वारा Yiannis Ioannides, Oluwakemi Lokulo‐Sodipe, Deborah Mackay, Justin H. Davies, I. Karen Temple

    प्रकाशित 2014
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    Artigo
    सूची में सहेजें
    में बचाया:
  10. 10
    Maternal uniparental disomy for chromosome 14.

    Maternal uniparental disomy for chromosome 14. द्वारा I. Karen Temple, Annette E. Cockwell, Terry Hassold, Dorothy Pettay, P A Jacobs

    प्रकाशित 1991
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  11. 11
    Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.

    Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. द्वारा I. Karen Temple, R J Gardner, Deborah Mackay, John Barber, David Robinson, Julian Hamilton‐Shield

    प्रकाशित 2000
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  12. 12
    Elements of morphology: Standard terminology for the hands and feet

    Elements of morphology: Standard terminology for the hands and feet द्वारा Leslie G. Biesecker, Jon M. Aase, Carol L. Clericuzio, Fiorella Gurrieri, I. Karen Temple, Helga V. Toriello

    प्रकाशित 2009
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    Artigo
    सूची में सहेजें
    में बचाया:
  13. 13
    The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

    The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study द्वारा Elisa De Franco, Sarah E. Flanagan, Jayne Houghton, Hana Lango Allen, Deborah Mackay, I. Karen Temple, Sian Ellard, Andrew T. Hattersley

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  14. 14
    Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

    Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1 द्वारा Rebecca Poole, Donald J Leith, Louise E Docherty, Mansur E Shmela, Christine Gicquel, Miranda Splitt, I. Karen Temple, Deborah Mackay

    प्रकाशित 2011
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  15. 15
    Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

    Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. द्वारा Daniel Catchpoole, Wayne Lam, D Valler, I. Karen Temple, Johanna A. Joyce, Wolf Reik, Paul N. Schofield, E.R. Maher

    प्रकाशित 1997
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    Artigo
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    में बचाया:
  16. 16
    Elements of morphology: General terms for congenital anomalies

    Elements of morphology: General terms for congenital anomalies द्वारा Raoul C. M. Hennekam, Leslie G. Biesecker, Judith Allanson, Judith G. Hall, John M. Opitz, I. Karen Temple, John C. Carey

    प्रकाशित 2013
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    Artigo
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    में बचाया:
  17. 17
    Aetiopathology and genetic basis of neonatal diabetes

    Aetiopathology and genetic basis of neonatal diabetes द्वारा Julian Hamilton‐Shield, R J Gardner, Emma Wadsworth, Margo L. Whiteford, R S James, David Robinson, J D Baum, I. Karen Temple

    प्रकाशित 1997
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    Artigo
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  18. 18
    Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating Mutation of the KCNJ11 Gene Encoding the Kir6.2 Subunit of the β-Cell Potassium Adenosine Triphosphate Channel

    Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating Mutation of the KCNJ11 Gene Encoding the Kir6.2 Subunit of the β-Cell Potassium Adenosine Triphosph... द्वारा Anna L. Gloyn, Elizabeth A. Cummings, Emma L. Edghill, Lorna W. Harries, R. Scott, Teresa Costa, I. Karen Temple, Andrew T. Hattersley, Sian Ellard

    प्रकाशित 2004
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    Artigo
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    में बचाया:
  19. 19
    NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

    NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes द्वारा Jenny Douglas, Sandra Hanks, I. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, R.P. Trevor Cole, Nazneen Rahman

    प्रकाशित 2003
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    Artigo
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    में बचाया:
  20. 20
    Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

    Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome द्वारा Saskia M. Maas, Maria Lombardi, A. J. van Essen, Emma Wakeling, B. Castle, I. Karen Temple, Vibhore Kumar, Karin Writzl, Raoul C. M. Hennekam

    प्रकाशित 2009
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    Artigo
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    में बचाया:

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