खोज परिणाम - Jill Clayton‐Smith

परिणाम को परिष्कृत करें
  1. 1
    Angelman syndrome: a review of the clinical and genetic aspects

    Angelman syndrome: a review of the clinical and genetic aspects द्वारा Jill Clayton‐Smith

    प्रकाशित 2003
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  2. 2
    Fetal valproate syndrome.

    Fetal valproate syndrome. द्वारा Jill Clayton‐Smith, Dian Donnai

    प्रकाशित 1995
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  3. 3
    Angelman syndrome.

    Angelman syndrome. द्वारा Jill Clayton‐Smith, Marcus Pembrey

    प्रकाशित 1992
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  4. 4
    Evolving phenotype of Marfan's syndrome

    Evolving phenotype of Marfan's syndrome द्वारा K. Lipscomb, Jill Clayton‐Smith, R Harris

    प्रकाशित 1997
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    Artigo
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    में बचाया:
  5. 5
    Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

    Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes द्वारा Simon Ramsden, Jill Clayton‐Smith, Rachael Birch, Karin Buiting

    प्रकाशित 2010
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  6. 6
    Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate

    Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate द्वारा George Mawer, Jill Clayton‐Smith, Helen Coyle, Usha Kini

    प्रकाशित 2002
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    Artigo
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    में बचाया:
  7. 7
    Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

    Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update द्वारा Ana Beleza‐Meireles, Jill Clayton‐Smith, Jorge Saraiva, May Tassabehji

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें
    Revisão
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    में बचाया:
  8. 8
    AUTISM SPECTRUM DISORDERS FOLLOWING IN UTERO EXPOSURE TO ANTIEPILEPTIC DRUGS

    AUTISM SPECTRUM DISORDERS FOLLOWING IN UTERO EXPOSURE TO ANTIEPILEPTIC DRUGS द्वारा Rebecca Bromley, G. E. Mawer, Jill Clayton‐Smith, Gus A. Baker

    प्रकाशित 2008
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  9. 9
    Molecular mechanisms in Angelman syndrome: a survey of 93 patients.

    Molecular mechanisms in Angelman syndrome: a survey of 93 patients. द्वारा Christopher T. Chan, Jill Clayton‐Smith, Xingbo Cheng, Jess Buxton, T. Webb, Marcus Pembrey, S Malcolm

    प्रकाशित 1993
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  10. 10
    Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

    Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes द्वारा Jasmin Beygo, Karin Buiting, Simon Ramsden, Rachael Ellis, Jill Clayton‐Smith, Deniz Kanber

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  11. 11
    Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis

    Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis द्वारा Graeme Black, Rahat Perveen, Richard Bonshek, Mark Cahill, Jill Clayton-Smith, I. Christopher Lloyd, David McLeod

    प्रकाशित 1999
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  12. 12
    Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

    Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Ab... द्वारा Irena Vrečar, Josie Innes, Elizabeth A. Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton‐Smith, Sofia Douzgou

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  13. 13
    Interchromosomal Insertional Translocation at Xq26.3 Alters<i>SOX3</i>Expression in an Individual With XX Male Sex Reversal

    Interchromosomal Insertional Translocation at Xq26.3 Alters<i>SOX3</i>Expression in an Individual With XX Male Sex Reversal द्वारा Bryan P. Haines, James Hughes, Mark Corbett, Marie Shaw, Josie Innes, Leena Patel, Jozef Gécz, Jill Clayton‐Smith, Paul Q. Thomas

    प्रकाशित 2015
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    Artigo
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    में बचाया:
  14. 14
    Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

    Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach द्वारा Mahmoud Musleh, Georgina Hall, I. Christopher Lloyd, Rachel Gillespie, S. Waller, Sofia Douzgou, Jill Clayton‐Smith, Elias Kehdi, Graeme Black, Jane Ashworth

    प्रकाशित 2016
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    Artigo
    सूची में सहेजें
    में बचाया:
  15. 15
    Prevalence of fetal alcohol spectrum disorder in Greater Manchester, UK: An active case ascertainment study

    Prevalence of fetal alcohol spectrum disorder in Greater Manchester, UK: An active case ascertainment study द्वारा Robyn McCarthy, Raja Mukherjee, Kate M. Fleming, Jonathan Green, Jill Clayton‐Smith, Alan D. Price, Clare S. Allely, Penny A. Cook

    प्रकाशित 2021
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    Artigo
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    में बचाया:
  16. 16
    Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome

    Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome द्वारा Irina Balikova, A‐E Lehesjoki, Thomy de Ravel, Bernard Thienpont, Kate Chandler, Jill Clayton‐Smith, A L Träskelin, J-P. Fryns, Joris Vermeesch

    प्रकाशित 2009
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    Artigo
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    में बचाया:
  17. 17
    A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

    A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders द्वारा Daniel A. King, Tomas Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton‐Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E. Hurles

    प्रकाशित 2013
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    Artigo
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    में बचाया:
  18. 18
    The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs

    The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs द्वारा Rebecca Bromley, G. E. Mawer, Michelle Briggs, Christopher P. Cheyne, Jill Clayton‐Smith, Marta García‐Fiñana, Rachel Kneen, S. B. Lucas, Rebekah Shallcross, Gus A. Baker, Gus A. Baker, Michelle Briggs, Rebecca Bromley, Jill Clayton‐Smith, Pete Dixon, Alan Fryer, Alison Gummery, Rachel Kneen, Lydia Kerr, S. B. Lucas, G. E. Mawer, Rebekah Shallcross

    प्रकाशित 2013
    पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  19. 19
    Assisted reproductive therapies and imprinting disorders—a preliminary British survey

    Assisted reproductive therapies and imprinting disorders—a preliminary British survey द्वारा Alastair Sutcliffe, Catherine Peters, Sarah Bowdin, I. Karen Temple, William Reardon, Lisa M Wilson, Jill Clayton‐Smith, L A Brueton, Wendy Bannister, Eamonn R. Maher

    प्रकाशित 2005
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    Artigo
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    में बचाया:
  20. 20
    Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child

    Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child द्वारा Jennifer Weston, Rebecca Bromley, Cerian F Jackson, Naghme Adab, Jill Clayton‐Smith, J Greenhalgh, Juliet Hounsome, Andrew McKay, Catrin Tudur Smith, Anthony G Marson

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:

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