J. Clayton-smith: search on Z-Library

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51

Jeune syndrome and cystinuria

Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 69 KB

english, 1991

52

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

Navaratnam Elanko, Julie S. Sibbring, Kay A. Metcalfe, Jill Clayton-Smith, Dian Donnai, I. Karen Temple, Steven A. Wall, Andrew O.M. Wilkie

Journal:

Year:

2001

Language:

english

File:

PDF, 284 KB

english, 2001

53

Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost-consequences analysis

WG Newman, S Hamilton, J Ayres, N Sanghera, A Smith, L Gaunt, LM Davies, J Clayton-Smith

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 93 KB

english, 2007

54

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

D. Beysen, J. Raes, B.P. Leroy, A. Lucassen, J.R.W. Yates, J. Clayton-Smith, H. Ilyina, S. Sklower Brooks, S. Christin-Maitre, M. Fellous, J.P. Fryns, J.R. Kim, P. Lapunzina, E. Lemyre, F. Meire, L.M.

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 3.32 MB

english, 2005

55

Trisomy 18 mosaicism: report of two cases

Siddharth Banka, Kay Metcalfe, Jill Clayton-Smith

Journal:

World Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 675 KB

english, 2013

56

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

Gillespie, R. L., Urquhart, J., Lovell, S. C., Biswas, S., Parry, N. R. A., Schorderet, D. F., Lloyd, I. C., Clayton-Smith, J., Black, G. C.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 1016 KB

english, 2015

57

Medical genetics: advances in brief: Magnetic resonance imaging in phenylketonuria

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 292 KB

english, 1996

58

Medical genetics: advances in brief: Acquisition of Pseudomonas cepacia at summer camps for cystic fibrosis

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 260 KB

english, 1994

59

Examination of fetuses after induced abortion for fetal abnormality.

Clayton-Smith, J, Farndon, P A, McKeown, C, Donnai, D

Journal:

Year:

1990

Language:

english

File:

PDF, 659 KB

english, 1990

60

Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome

Pei, Yang, Beaman, Glenda M., Mansfield, David, Clayton-Smith, Jill, Stewart, Murray, Newman, William G.

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 626 KB

english, 2018

61

Alpha-fetoprotein in Angelman Syndrome

Jill Clayton-Smith

Journal:

Developmental Medicine & Child Neurology

Year:

1991

Language:

english

File:

PDF, 151 KB

english, 1991

62

Another cause of vaccine encephalopathy: A case of Angelman syndrome

Jan Novy, Claudia B. Catarino, Krishna Chinthapalli, Shelagh M. Smith, Jill Clayton-Smith, Raoul C.M. Hennekam, Peter Hammond, Sanjay M. Sisodiya

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 676 KB

english, 2012

63

Medical genetics: advances in brief: Health supervision for children with achondroplasia

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 148 KB

english, 1995

64

Medical genetics: advances in brief: Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor-suppressor gene WT1

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 281 KB

english, 1994

65

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

Lindsay, S, Ireland, M, O'Brien, O, Clayton-Smith, J, Hurst, J A, Mann, J, Cole, T, Sampson, J, Slaney, S, Schlessinger, D, Burn, J, Pilia, G

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 967 KB

english, 1997

66

Difference in methylation patterns within the D15S9 region of chromosome 15qll–13 in first cousins with Angelman syndrome and Prader–Willi syndrome

Dr. Jill Clayton-Smith, Daniel J. Driscoll, Michael F. Waters, Tessa Webb, Tony Andrews, Sue Malcolm, Marcus E. Pembrey, Robert D. Nicholls

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 378 KB

english, 1993

67

Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals

Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 383 KB

english, 1993

68

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

Clayton-Smith, Jill, Walters, Sarah, Hobson, Emma, Burkitt-Wright, Emma, Smith, Rupert, Toutain, Annick, Amiel, Jeanne, Lyonnet, Stanislas, Mansour, Sahar, Fitzpatrick, David

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 181 KB

english, 2008

69

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate E. Chandler, Bronwyn Kerr,

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 538 KB

english, 2011

70

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities

DO Robinson, F Lin, M Lyon, M Raponi, E Cross, HE White, H Cox, J Clayton-Smith, D Baralle

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 711 KB

english, 2012

71

Evolving phenotype of Marfan's syndrome

Lipscomb, K. J, Clayton-Smith, J., Harris, R.

Journal:

Archives of Disease in Childhood

Year:

1997

Language:

english

File:

PDF, 171 KB

english, 1997

72

A new diagnostic approach to children with cataract caused by metabolic disease

Gillespie, Rachel L., Ashworth, Jane, Biswas, Susmito, Ramsden, Simon C., Clayton-Smith, Jill, Lloyd, I. Chris, Black, Graeme C.

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2015

Language:

english

File:

PDF, 43 KB

english, 2015

73

Cognitive Function at Three Years of Age After Fetal Exposure to Antiepileptic Drugs

Meador, Kimford J., Baker, Gus A., Browning, Nancy, Clayton-Smith, Jill, Combs-Cantrell, Deborah T., Cohen, Morris, Kalayjian, Laura A., Kanner, Andres, Liporace, Joyce D., Pennell, Page B., Privitera

Journal:

Obstetric and Gynecologic Survey

Year:

2009

Language:

english

File:

PDF, 597 KB

english, 2009

74

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

Low, KJ, Stals, K, Caswell, R, Wakeling, M, Clayton-Smith, J, Donaldson, A, Foulds, N, Norman, A, Splitt, M, Urankar, K, Vijayakumar, K, Majumdar, A, Study, DDD, Ellard, S, Smithson, SF

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.25 MB

english, 2018

75

Symptomatic Chiari I malformation in Kabuki syndrome

Karen L. Ciprero, Jill Clayton-Smith, Dian Donnai, Robert A. Zimmerman, Elaine H. Zackai, Jeffrey E. Ming

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

76

Perrault syndrome: further evidence for genetic heterogeneity

Jenkinson, Emma M., Clayton-Smith, Jill, Mehta, Sarju, Bennett, Christopher, Reardon, Willie, Green, Andrew, Pearce, Simon H. S., Michele, Giuseppe, Conway, Gerard S., Cilliers, Deirdre

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 123 KB

english, 2012

77

Relationship of child IQ to parental IQ and education in children with fetal antiepileptic drug exposure

Kimford J. Meador, Gus A. Baker, Nancy Browning, Jill Clayton-Smith, Morris J. Cohen, Laura A. Kalayjian, Andres Kanner, Joyce D. Liporace, Page B. Pennell, Michael Privitera, David W. Loring

Journal:

Epilepsy & Behavior

Year:

2011

Language:

english

File:

PDF, 182 KB

english, 2011

78

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

Elena Boland, Jill Clayton-Smith, Victoria G. Woo, Shane McKee, Forbes D.C. Manson, Livija Medne, Elaine Zackai, Eric A. Swanson, David Fitzpatrick, Kathleen J. Millen, Elliott H. Sherr, William B. Do

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.19 MB

english, 2007

79

FETAL EFFECTS OF SELECTIVE SEROTONIN REUPTAKE INHIBITOR TREATMENT DURING PREGNANCY: IMMEDIATE AND LONGER TERM CHILD OUTCOMES

BROMLEY, REBECCA L, WIECK, ANGELIKA, MAKAROVA, DARIA, TOWER, CLARE, WOOD, AMANDA, CLAYTON-SMITH, JILL

Journal:

Fetal and Maternal Medicine Review

Year:

2012

Language:

english

File:

PDF, 347 KB

english, 2012

80

Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder

Clayton-Smith, Jill, Giblin, Carol, Smith, Rupert A., Dunn, Carolyn, Willatt, Lionel

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 162 KB

english, 2010

81

Medical genetics: advances in brief: Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 286 KB

english, 1994

82

Medical genetics: advances in brief: Bone marrow transplantation for autosomal recessive osteopetrosis

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 318 KB

english, 1995

83

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Ryan, A K, Goodship, J A, Wilson, D I, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, F L, Clayton-Smith, J, Hatchwell, E, McKeown, C, Bee

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.65 MB

english, 1997

84

Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth

CLAYTON-SMITH, J., KRAJEWSKA-WALASEK, M., FRYER, A., DONNAI, D.

Journal:

Clinical Dysmorphology

Year:

1994

File:

PDF, 981 KB

1994

85

Psychological profiles and behavioural characteristics in chromosomal syndromes. By Martine M.C. Borghgraef

Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 82 KB

english, 1992

86

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

Simon C Ramsden, Jill Clayton-Smith, Rachael Birch, Karin Buiting

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 806 KB

english, 2010

87

U. Eiholzer, D. L’Allemand, WB. Zipf (eds): Prader-Willi syndrome as a model for obesity

Jill Clayton-Smith

Journal:

Year:

2004

Language:

english

File:

PDF, 84 KB

english, 2004

88

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

D. J. G. Mackay, S. E. Boonen, J. Clayton-Smith, J. Goodship, J. M. D. Hahnemann, S. G. Kant, P. R. Njølstad, N. H. Robin, D. O. Robinson, R. Siebert, J. P. H. Shield, H. E. White, I. K. Temple

Journal:

Year:

2006

Language:

english

File:

PDF, 333 KB

english, 2006

89

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Vermeesch, Joris Robert, Fiegler, Heike, de Leeuw, Nicole, Szuhai, Karoly, Schoumans, Jacqueline, Ciccone, Roberto, Speleman, Frank, Rauch, Anita, Clayton-Smith, Jill, Van Ravenswaaij, Conny

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 125 KB

english, 2007

90

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

J.A. Fantes, E. Boland, J. Ramsay, D. Donnai, M. Splitt, J.A. Goodship, H. Stewart, M. Whiteford, P. Gautier, L. Harewood, S. Holloway, F. Sharkey, E. Maher, V. van Heyningen, J. Clayton-Smith, D.R. F

Journal:

The American Journal of Human Genetics

Year:

2008

File:

PDF, 26 KB

2008

91

On the prevalence of Angelman syndrome

Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 113 KB

english, 1995

92

A further patient with the lethal type of Larsen syndrome.

Clayton-Smith, J, Donnai, D

Journal:

Journal of Medical Genetics

Year:

1988

Language:

english

File:

PDF, 401 KB

english, 1988

93

Medical genetics: advances in brief: Myophosphorylase deficiency: an unusually severe form with myoglobinuria

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 267 KB

english, 1995

94

Fetal valproate syndrome.

Clayton-Smith, J, Donnai, D

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.48 MB

english, 1995

95

Folate and Clefts of the Lip and Palate—A U.K.-Based Case-Control Study: Part I: Dietary and Supplemental Folate

Little, J., Gilmour, M., Mossey, P. A., FitzPatrick, D., Cardy, A., Clayton-Smith, J., Fryer, A. E.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2008

Language:

english

File:

PDF, 254 KB

english, 2008

96

Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder?

OʼDriscoll, Mary C., Clayton-Smith, Jill

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 143 KB

english, 2008

97

In utero exposure to valproate increases the risk of isolated cleft palate

Jackson, Adam, Bromley, Rebecca, Morrow, James, Irwin, Beth, Clayton-Smith, Jill

Journal:

Archives of Disease in Childhood - Fetal and Neonatal Edition

Year:

2016

Language:

english

File:

PDF, 351 KB

english, 2016

98

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Lenassi, Eva, Clayton-Smith, Jill, Douzgou, Sofia, Ramsden, Simon C., Ingram, Stuart, Hall, Georgina, Hardcastle, Claire L., Fletcher, Tracy A., Taylor, Rachel L., Ellingford, Jamie M., Newman, Willia

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 381 KB

2019

99

A case of benign subcutaneous emphysema

Clayton-Smith, M. A., Sivathasan, N.

Journal:

Year:

2014

File:

PDF, 236 KB

2014

100

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

Jill Urquhart, Graeme C.M. Black, Jill Clayton-Smith

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 400 KB

english, 2009

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