Tekijähaun tulokset

1

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

Julkaistu 2003

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2

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

Julkaistu 1995

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Artigo

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3

Angelman syndrome. Tekijä Jill Clayton‐Smith, Marcus Pembrey

Julkaistu 1992

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Artigo

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4

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

Julkaistu 1997

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Artigo

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5

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

Julkaistu 2010

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Artigo

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6

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

Julkaistu 2002

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Artigo

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7

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

Julkaistu 2014

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8

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

Julkaistu 2008

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Artigo

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9

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

Julkaistu 1993

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Artigo

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10

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

Julkaistu 2019

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Artigo

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11

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

Julkaistu 1999

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12

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

Julkaistu 2017

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13

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

Julkaistu 2015

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14

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

Julkaistu 2016

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15

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

Julkaistu 2021

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Artigo

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16

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

Julkaistu 2009

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17

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

Julkaistu 2013

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18

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

Julkaistu 2013

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19

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

Julkaistu 2005

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20

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

Julkaistu 2016

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

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

Angelman syndrome. Tekijä Jill Clayton‐Smith, Marcus Pembrey

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

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes Tekijä 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 Tekijä George Mawer, Jill Clayton‐Smith, Helen Coyle, Usha Kini

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

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

Molecular mechanisms in Angelman syndrome: a survey of 93 patients. Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä Jennifer Weston, Rebecca Bromley, Cerian F Jackson, Naghme Adab, Jill Clayton‐Smith, J Greenhalgh, Juliet Hounsome, Andrew McKay, Catrin Tudur Smith, Anthony G Marson

Hakutulokset - Jill Clayton‐Smith

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

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

Angelman syndrome. Tekijä Jill Clayton‐Smith, Marcus Pembrey

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

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes Tekijä 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 Tekijä George Mawer, Jill Clayton‐Smith, Helen Coyle, Usha Kini

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

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

Molecular mechanisms in Angelman syndrome: a survey of 93 patients. Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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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