Egile-bilaketaren emaitzak

1

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

Argitaratua 2003

Testu osoa Testu osoa
Revisão

Gogokoenen artean sartu

Gorde:
2

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

Argitaratua 1995

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
3

Angelman syndrome. nork Jill Clayton‐Smith, Marcus Pembrey

Argitaratua 1992

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
4

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

Argitaratua 1997

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
5

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

Argitaratua 2010

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
6

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

Argitaratua 2002

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
7

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

Argitaratua 2014

Testu osoa
Revisão

Gogokoenen artean sartu

Gorde:
8

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

Argitaratua 2008

Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
9

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

Argitaratua 1993

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
10

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

Argitaratua 2019

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
11

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

Argitaratua 1999

Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
12

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

Argitaratua 2017

Testu osoa
Revisão

Gogokoenen artean sartu

Gorde:
13

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

Argitaratua 2015

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
14

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

Argitaratua 2016

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
15

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

Argitaratua 2021

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
16

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

Argitaratua 2009

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
17

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

Argitaratua 2013

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
18

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

Argitaratua 2013

Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
19

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

Argitaratua 2005

Testu osoa Testu osoa
Artigo

Gogokoenen artean sartu

Gorde:
20

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

Argitaratua 2016

Testu osoa
Revisão

Gogokoenen artean sartu

Gorde:

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

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

Angelman syndrome. nork Jill Clayton‐Smith, Marcus Pembrey

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

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

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

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

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

Bilaketaren emaitzak - Jill Clayton‐Smith

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

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

Angelman syndrome. nork Jill Clayton‐Smith, Marcus Pembrey

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

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

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

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

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

Bilaketa egiteko lanabesak:

Antzeko gaiak