Auteur zoekresultaten

1

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

Gepubliceerd in 2003

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

Gepubliceerd in 1995

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Angelman syndrome. door Jill Clayton‐Smith, Marcus Pembrey

Gepubliceerd in 1992

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

Gepubliceerd in 1997

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

Gepubliceerd in 2010

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

Gepubliceerd in 2002

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

Gepubliceerd in 2014

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

Gepubliceerd in 2008

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

Gepubliceerd in 1993

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

Gepubliceerd in 2019

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

Gepubliceerd in 1999

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

Gepubliceerd in 2017

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Interchromosomal Insertional Translocation at Xq26.3 AltersSOX3Expression in an Individual With XX Male Sex Reversal door Bryan P. Haines, James Hughes, Mark Corbett, Marie Shaw, Josie Innes, Leena Patel, Jozef Gécz, Jill Clayton‐Smith, Paul Q. Thomas

Gepubliceerd in 2015

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

Gepubliceerd in 2016

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

Gepubliceerd in 2021

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Deletions in theVPS13B(COH1) gene as a cause of Cohen syndrome door Irina Balikova, A‐E Lehesjoki, Thomy de Ravel, Bernard Thienpont, Kate Chandler, Jill Clayton‐Smith, A L Träskelin, J-P. Fryns, Joris Vermeesch

Gepubliceerd in 2009

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

Gepubliceerd in 2013

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The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs door 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

Gepubliceerd in 2013

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Assisted reproductive therapies and imprinting disorders—a preliminary British survey door 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

Gepubliceerd in 2005

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

Gepubliceerd in 2016

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

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

Angelman syndrome. door Jill Clayton‐Smith, Marcus Pembrey

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

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

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

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

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

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

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

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

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

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

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

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

Assisted reproductive therapies and imprinting disorders—a preliminary British survey door 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

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

Zoekresultaten - Jill Clayton‐Smith

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

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

Angelman syndrome. door Jill Clayton‐Smith, Marcus Pembrey

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

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

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

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

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

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

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

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

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

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

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

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

Assisted reproductive therapies and imprinting disorders—a preliminary British survey door 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

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

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