Dahkkiohcama bohtosat

1

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

Almmustuhtton 2003

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Revisão

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2

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

Almmustuhtton 1995

Viečča ollesdeavstta Viečča ollesdeavstta
Artigo

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3

Angelman syndrome. Dahkki Jill Clayton‐Smith, Marcus Pembrey

Almmustuhtton 1992

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Artigo

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4

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

Almmustuhtton 1997

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Artigo

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5

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

Almmustuhtton 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 Dahkki George Mawer, Jill Clayton‐Smith, Helen Coyle, Usha Kini

Almmustuhtton 2002

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Artigo

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7

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

Almmustuhtton 2014

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Revisão

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8

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

Almmustuhtton 2008

Viečča ollesdeavstta
Artigo

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9

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

Almmustuhtton 1993

Viečča ollesdeavstta Viečča ollesdeavstta
Artigo

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10

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

Almmustuhtton 2019

Viečča ollesdeavstta Viečča ollesdeavstta
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 Dahkki Graeme Black, Rahat Perveen, Richard Bonshek, Mark Cahill, Jill Clayton-Smith, I. Christopher Lloyd, David McLeod

Almmustuhtton 1999

Viečča ollesdeavstta
Artigo

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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... Dahkki Irena Vrečar, Josie Innes, Elizabeth A. Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton‐Smith, Sofia Douzgou

Almmustuhtton 2017

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13

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

Almmustuhtton 2015

Viečča ollesdeavstta Viečča ollesdeavstta
Artigo

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14

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

Almmustuhtton 2016

Viečča ollesdeavstta Viečča ollesdeavstta
Artigo

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15

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

Almmustuhtton 2021

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Artigo

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16

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

Almmustuhtton 2009

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Artigo

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17

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

Almmustuhtton 2013

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Artigo

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18

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

Almmustuhtton 2013

Viečča ollesdeavstta
Artigo

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19

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

Almmustuhtton 2005

Viečča ollesdeavstta Viečča ollesdeavstta
Artigo

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20

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

Almmustuhtton 2016

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Revisão

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Furkejuvvon:

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

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

Angelman syndrome. Dahkki Jill Clayton‐Smith, Marcus Pembrey

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

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

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

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

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

Ohcanbohtosat - Jill Clayton‐Smith

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

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

Angelman syndrome. Dahkki Jill Clayton‐Smith, Marcus Pembrey

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

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

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

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

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