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1

Phylotranscriptomic analysis and genome evolution of the Cypripedioideae (Orchidaceae)

Unruh, Sarah A., McKain, Michael R., Lee, Yung-I, Yukawa, Tomohisa, McCormick, Melissa K., Shefferson, Richard P., Smithson, Ann, Leebens-Mack, James H., Pires, J. Chris

Journal:

American Journal of Botany

Year:

2018

Language:

english

File:

PDF, 481 KB

english, 2018

2

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Grange, Dorothy K., Roessler, Helen I., McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S., Knoers, Nine V. A. M., Lee, Jin‐Moo, Kirk, Edwin P., Scurr, Ingrid, Smithson, Sarah F., S

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2019

File:

PDF, 29.56 MB

2019

3

Sexuality and Exercise Motivations: Are Gay Men and Heterosexual Women Most Likely to be Motivated by Concern About Weight and Appearance?

Sarah Grogan, Mark Conner, Helen Smithson

Journal:

Year:

2006

Language:

english

File:

PDF, 119 KB

english, 2006

4

Premenstrual dysphoric disorder in women with epilepsy: Relationships to potential epileptic, antiepileptic drug, and reproductive endocrine factors

Andrew G. Herzog, Sarah D. Smithson, Kristen M. Fowler, Kaarkhuzali B. Krishnamurthy, Diane Sundstrom, Laura A. Kalayjian, Christi N. Heck, Sandra Oviedo, Guadalupe Correl-Leyva, Eduardo Garcia, Kathe

Journal:

Epilepsy & Behavior

Year:

2011

Language:

english

File:

PDF, 384 KB

english, 2011

5

Skeletal dysplasias

Jane A. Hurst, Helen V. Firth, Sarah Smithson

Journal:

Seminars in Fetal and Neonatal Medicine

Year:

2005

Language:

english

File:

PDF, 148 KB

english, 2005

6

A population based study comparing changes in rotavirus burden on the Island of Ireland between a highly vaccinated population and an unvaccinated population

Armstrong, Gillian, Gallagher, Naomh, Cabrey, Paul, Graham, Adele M., McKeown, Paul J., Jackson, Sarah, Dallat, Mary, Smithson, Richard D.

Journal:

Year:

2016

Language:

english

File:

PDF, 584 KB

english, 2016

7

A new Mississippian tetrapod from Fife, Scotland, and its environmental context

Smithson, Timothy R., Browne, Michael A. E., Davies, Sarah J, Marshall, John E. A., Millward, David, Walsh, Stig A., Clack, Jennifer A., Angielczyk, Kenneth

Journal:

Papers in Palaeontology

Year:

2017

Language:

english

File:

PDF, 5.66 MB

english, 2017

8

Evidence-based physical examination

Smithson, Sarah, Bartlett, Maggie, Blanchard, David, Webb, Matthew

Journal:

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

9

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

Cleaver, Ruth, Berg, Jonathan, Craft, Emily, Foster, Alison, Gibbons, Richard J., Hobson, Emma, Lachlan, Katherine, Naik, Swati, Sampson, Julian R., Sharif, Saba, Smithson, Sarah, Parker, Michael J.,

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.08 MB

english, 2019

10

Reinterpreting the age of the uppermost ‘Old Red Sandstone' and Early Carboniferous in Scotland

MARSHALL, John E. A., REEVES, Emma J., BENNETT, Carys E., DAVIES, Sarah J., KEARSEY, Timothy I., MILLWARD, David, SMITHSON, Timothy R., BROWNE, Michael A. E.

Journal:

Earth and Environmental Science Transactions of the Royal Society of Edinburgh

Year:

2019

Language:

english

File:

PDF, 9.38 MB

english, 2019

11

Peak Performance: A Communications-Based Leadership and Teamwork Simulation for Fourth-Year Medical Students

Smithson, Sarah, Beck Dallaghan, Gary, Crowner, Jason, Derry, Laura Trollinger, Vijayakumar, Akshitha (Ammu), Storrie, Mindy, Daaleman, Timothy P

Journal:

Journal of Medical Education and Curricular Development

Year:

2020

File:

PDF, 221 KB

2020

12

LOSS OF HETEROZYGOSITY AT 5q21 IN NON-SMALL CELL LUNG CANCER: A FREQUENT EVENT BUT WITHOUT EVIDENCE OFAPC MUTATION

COOPER, CINDY A., BUBB, VIVIEN J., SMITHSON, NICOLA, CARTER, ROBERT L., GLEDHILL, SARAH, LAMB, DAVID, WYLLIE, ANDREW H., CAREY, FRANCIS A.

Journal:

The Journal of Pathology

Year:

1996

Language:

english

File:

PDF, 538 KB

english, 1996

13

Mardini–Nyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib—Is there a distinct recessive syndrome?

Rob Hastings, David Harding, Alan Donaldson, Rachel Liebling, Alison Hayes, Alison Kraus, Shelagh Joss, Shuba Narayanaswamy, Peter Turnpenny, Sarah Smithson

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 122 KB

english, 2009

14

Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases

Sahar Mansour, Fiona Connell, Colin Steward, Pia Ostergaard, Glen Brice, Sarah Smithson, Peter Lunt, Steve Jeffery, Inderjeet Dokal, Tom Vulliamy, Brenda Gibson, Shirley Hodgson, Sally Cottrell, Louis

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 233 KB

english, 2010

15

Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH

Morag Collinson, Samantha J. Leonard, Jocelyn Charlton, John A. Crolla, Caroline Silve, Christine M. Hall, Colin Oglivie, Margaret A. James, Sarah F. Smithson

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 286 KB

english, 2010

16

Schimke immunoosseous dysplasia: suggestions of genetic diversity

J. Marietta Clewing, Helen Fryssira, David Goodman, Sarah F. Smithson, Emily A. Sloan, Shu Lou, Yan Huang, Kunho Choi, Thomas Lücke, Harika Alpay, Jean-Luc André, Yumi Asakura, Nathalie Biebuyck-Gouge

Journal:

Year:

2007

File:

PDF, 272 KB

2007

17

Schimke immunoosseous dysplasia: defining skeletal features

Kshamta B. Hunter, Thomas Lücke, Jürgen Spranger, Sarah F. Smithson, Harika Alpay, Jean-Luc André, Yumi Asakura, Radovan Bogdanovic, Dominique Bonneau, Robyn Cairns, Karlien Cransberg, Stefan Fründ, H

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 909 KB

english, 2010

18

Learning about cultural diversity: the whole story

Sarah Smithson, Pip Fisher

Journal:

Medical Education

Year:

2006

Language:

english

File:

PDF, 55 KB

english, 2006

19

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

Paulien A. Terhal, Paula van Dommelen, Martine Le Merrer, Andreas Zankl, Marleen E.H. Simon, Sarah F. Smithson, Carlo Marcelis, Bronwyn Kerr, Esther Kinning, Sahar Mansour, Raoul C.M. Hennekam, Annema

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 964 KB

english, 2012

20

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer, Jacob Sosna, Judith Melki, David H. Zangen, Sarah F. Smithson, Zvi Borochowitz, Ruth Belostotsky, Annick Raas-Rothschild

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 690 KB

english, 2009

21

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise Cavalcanti, Anne-Lise Delezoide,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 925 KB

english, 2009

22

Pneumothorax in two siblings: Is there a genetic basis for recurrence?

John Henderson, Pradeep Narayan, Sarah F. Smithson, Anthony Morgan

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

2009

Language:

english

File:

PDF, 117 KB

english, 2009

23

A comparison of anastrozole and testosterone versus placebo and testosterone for treatment of sexual dysfunction in men with epilepsy and hypogonadism

Andrew G. Herzog, Erin L. Farina, Frank W. Drislane, Donald L. Schomer, Sarah D. Smithson, Kristen M. Fowler, Barbara A. Dworetzky, Edward B. Bromfield

Journal:

Epilepsy & Behavior

Year:

2010

Language:

english

File:

PDF, 207 KB

english, 2010

24

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances V. Elmslie, Muriel Holder-Espinasse, Melita Irving, Anand K. Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 351 KB

english, 2012

25

Dominant inheritance of primary glenoid dysplasia. Report of a father and son

Stuart N. Andrews, Sarah F. Smithson, Tim D. Bunker

Journal:

Shoulder & Elbow

Year:

2009

Language:

english

File:

PDF, 574 KB

english, 2009

26

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Hoischen, Alexander, van Bon, Bregje W M, Rodríguez-Santiago, Benjamín, Gilissen, Christian, Vissers, Lisenka E L M, de Vries, Petra, Janssen, Irene, van Lier, Bart, Hastings, Rob, Smithson, Sarah F,

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 394 KB

english, 2011

27

The mucopolysaccaridoses

Frederick R.E. Quiney, Rouin Amirfeyz, Sarah Smithson, Martin Gargan, Fergal Monsell

Journal:

Orthopaedics and Trauma

Year:

2012

Language:

english

File:

PDF, 75 KB

english, 2012

28

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

Steven J Keogh, Shane McKee, Sarah F Smithson, David Grier…

Journal:

Year:

2012

Language:

english

File:

PDF, 307 KB

english, 2012

29

Medical students’ reactions to an experience-based learning model of clinical education

Alexandra Hay, Sarah Smithson, Karen Mann, Tim Dornan

Journal:

Perspectives on Medical Education

Year:

2013

Language:

english

File:

PDF, 217 KB

english, 2013

30

Mothers with attitude — How the Mumsnet parenting forum offers space for new forms of femininity to emerge online

Pedersen, Sarah, Smithson, Janet

Journal:

Women's Studies International Forum

Year:

2013

Language:

english

File:

PDF, 224 KB

english, 2013

31

Orthopaedic manifestations of achondroplasia

Ward, Jayne, Gargan, Alice, Smithson, Sarah, Atherton, Guy

Journal:

Orthopaedics and Trauma

Year:

2013

Language:

english

File:

PDF, 398 KB

english, 2013

32

Predictive testing for inherited prion disease: report of 22 years experience

Owen, Jane, Beck, Jon, Campbell, Tracy, Adamson, Gary, Gorham, Michele, Thompson, Andrew, Smithson, Sarah, Rosser, Elizabeth, Rudge, Peter, Collinge, John, Mead, Simon

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 328 KB

english, 2014

33

Lessons from medical students’ perceptions of learning reflective skills: A multi-institutional study

Vivekananda-Schmidt, Pirashanthie, Marshall, Michelle, Stark, Patsy, Mckendree, Jean, Sandars, John, Smithson, Sarah

Journal:

Medical Teacher

Year:

2011

Language:

english

File:

PDF, 112 KB

english, 2011

34

Emotion Coupling and Regulation in Anorexia Nervosa

Fox, John R. E., Smithson, Emily, Baillie, Sarah, Ferreira, Nuno, Mayr, Ingrid, Power, Michael J.

Journal:

Clinical Psychology & Psychotherapy

Year:

2013

Language:

english

File:

PDF, 325 KB

english, 2013

35

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Ostergaard, Pia, Simpson, Michael A, Connell, Fiona C, Steward, Colin G, Brice, Glen, Woollard, Wesley J, Dafou, Dimitra, Kilo, Tatjana, Smithson, Sarah, Lunt, Peter, Murday, Victoria A, Hodgson, Shir

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 386 KB

english, 2011

36

Students’ hopes and fears about early patient contact: Lessons to be learned about preparing and supporting students during the first year

Smithson, Sarah, Hart, Jo, Wass, Val

Journal:

Medical Teacher

Year:

2010

Language:

english

File:

PDF, 114 KB

english, 2010

37

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Pereg

Journal:

Nature Communications

Year:

2015

Language:

english

File:

PDF, 499 KB

english, 2015

38

Early Mississippian sandy siltstones preserve rare vertebrate fossils in seasonal flooding episodes

Bennett, Carys E., Kearsey, Timothy I., Davies, Sarah J., Millward, David, Clack, Jennifer A., Smithson, Timothy R., Marshall, John E. A.

Journal:

Sedimentology (Wiley)

Year:

2016

Language:

english

File:

PDF, 7.75 MB

english, 2016

39

Prenatal diagnosis and postnatal outcome of massive abdominal aortic aneurysms-a case report

Bills, Victoria L., Smithson, Sarah F., Tsai-Goodman, Beverly, Tometski, Andrew, Overton, Timothy G.

Journal:

Prenatal Diagnosis

Year:

2015

Language:

english

File:

PDF, 2.36 MB

english, 2015

40

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

Sellick, Gabrielle S., Hoornaert, Kristein P., Mortier, Geert R., King, Catherine, Dolling, Claire L., Newbury-Ecob, Ruth A., Gargan, Martin, Hall, Christine M., Houlston, Richard S., Smithson, Sarah

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 309 KB

english, 2006

41

Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type

Smithson, Sarah F., Grier, David, Hall, Christine M.

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 290 KB

english, 2009

42

Monozygotic Twins Discordant for Trisomy 13; A Case of Trisomic Rescue Supporting the Continued Need for First Trimester Ultrasound

McFadden, Patrick, Smithson, Sarah, Massaro, Robert, Huang, Jialing, Prado, Gail, Shertz, Wendy

Journal:

Pediatric and Developmental Pathology

Year:

2016

Language:

english

File:

PDF, 2.62 MB

english, 2016

43

Clinical utility gene card for: Cantú syndrome

Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 117 KB

english, 2017

44

Consensus statement for the treatment of infantile haemangiomas with propranolol

Smithson, Sarah L, Rademaker, Marius, Adams, Susan, Bade, Stuart, Bekhor, Philip, Davidson, Samantha, Dore, Amanda, Drummond, Catherine, Fischer, Gayle, Gin, Alexander, Grills, Claire, Halbert, Anne,

Journal:

Australasian Journal of Dermatology

Year:

2017

Language:

english

File:

PDF, 207 KB

english, 2017

45

Screening Adults for Depression in Primary Care

Smithson, Sarah, Pignone, Michael P.

Journal:

Medical Clinics of North America

Year:

2017

Language:

english

File:

PDF, 515 KB

english, 2017

46

Liver Enzymes Elevation and Immune Reconstitution Among Treatment-Naïve HIV-Infected Patients Instituting Antiretroviral Therapy

Ofotokun, Ighovwerha, Lennox, Jeffrey L., Smithson, Sarah E., Lu, Chengxing, Easley, Kirk A.

Journal:

The American Journal of the Medical Sciences

Year:

2007

Language:

english

File:

PDF, 173 KB

english, 2007

47

Monozygotic Twins Discordant for Trisomy 13

McFadden, Patrick, Smithson, Sarah, Massaro, Robert, Huang, Jialing, Prado, Gail T, Shertz, Wendy

Journal:

Pediatric and Developmental Pathology

Year:

2017

Language:

english

File:

PDF, 1.44 MB

english, 2017

48

A splice-site variant in ANKRD11 associated with classical KBG syndrome

Low, Karen J., Hills, Alison, Williams, Maggie, Duff-Farrier, Celia, McKee, Shane, Smithson, Sarah F.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 450 KB

english, 2017

49

Mycophenolate mofetil to treat mid-dermal elastolysis

Smithson, Sarah L., Orchard, David, Scardamaglia, Laura

Journal:

Pediatric Dermatology

Year:

2018

Language:

english

File:

PDF, 585 KB

english, 2018

50

Diverse and durophagous: Early Carboniferous chondrichthyans from the Scottish Borders

Richards, Kelly R., Sherwin, Janet E., Smithson, Timothy R., Bennion, Rebecca F., Davies, Sarah J., Marshall, John E. A., Clack, Jennifer A.

Journal:

Earth and Environmental Science Transactions of the Royal Society of Edinburgh

Year:

2018

Language:

english

File:

PDF, 5.87 MB

english, 2018