Bowdin, S. : rechercher sur Z-Library

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1

Towards an International Event Management Body of Knowledge (EMBOK)

Silvers, Julia Rutherford, Bowdin, Glenn A. J., O'Toole, William J., Nelson, Kathleen Beard

Journal:

Event Management

Année:

2005

Langue:

english

Fichier:

PDF, 422 KB

english, 2005

2

Festival evaluation: An exploration of seven UK arts festivals

Williams, Michael, A J Bowdin, Glenn

Journal:

Managing Leisure

Année:

2007

Langue:

english

Fichier:

PDF, 180 KB

english, 2007

3

Events Management Research: State of the Art

Thomas, Rhodri, Bowdin, Glenn

Journal:

Event Management

Année:

2012

Langue:

english

Fichier:

PDF, 445 KB

english, 2012

4

Beckwith Weidemann syndrome: A behavioral phenotype–genotype study

Lindsey Kent, Sarah Bowdin, Gail A. Kirby, Wendy N. Cooper, Eamonn R. Maher

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 55 KB

english, 2008

5

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Girdea, Marta, Dumitriu, Sergiu, Fiume, Marc, Bowdin, Sarah, Boycott, Kym M., Chénier, Sébastien, Chitayat, David, Faghfoury, Hanna, Meyn, M. Stephen, Ray, Peter N., So, Joyce, Stavropoulos, Dimitri J

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 528 KB

english, 2013

6

Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) – A case report and review of congenital heart defects reported in the human ciliopathies

Karp, Natalya, Grosse-Wortmann, Lars, Bowdin, Sarah

Journal:

European Journal of Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 460 KB

english, 2012

7

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine

Bowdin, S.C., Hayeems, R.Z., Monfared, N., Cohn, R.D., Meyn, M.S.

Journal:

Clinical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 684 KB

english, 2015

8

A survey of assisted reproductive technology births and imprinting disorders

Bowdin, S., Allen, C., Kirby, G., Brueton, L., Afnan, M., Barratt, C., Kirkman-Brown, J., Harrison, R., Maher, E. R, Reardon, W.

Journal:

Human Reproduction

Année:

2007

Langue:

english

Fichier:

PDF, 66 KB

english, 2007

9

NovelMASP1mutations are associated with an expanded phenotype in 3MC1 syndrome

Atik, Tahir, Koparir, Asuman, Bademci, Guney, Foster, Joseph, Altunoglu, Umut, Mutlu, Gül Yesiltepe, Bowdin, Sarah, Elcioglu, Nursel, Tayfun, Gulsen A., Atik, Sevinc Sahin, Ozen, Mustafa, Ozkinay, Fer

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2015

10

Mosaic trisomy 1q: The longest surviving case

Chirag Patel, Graham Hardy, Phillip Cox, Sarah Bowdin, Carole McKeown, Alison Bedford Russell

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 135 KB

english, 2009

11

A deletion ofFGFR2creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

Aimee L Fenwick, Sarah C Bowdin, Regan EM Klatt, Andrew OM Wilkie

Journal:

BMC Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 424 KB

english, 2011

12

Pregnancy and perinatal outcomes after assisted reproduction: a comparative study

C. Allen, S. Bowdin, R. F. Harrison, A. G. Sutcliffe, L. Brueton, G. Kirby, J. Kirkman-Brown, C. Barrett, W. Reardon, E. Maher

Journal:

Irish Journal of Medical Science

Année:

2008

Langue:

english

Fichier:

PDF, 226 KB

english, 2008

13

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

Cooper, Wendy N, Luharia, Anita, Evans, Gail A, Raza, Hussain, Haire, Antonita C, Grundy, Richard, Bowdin, Sarah C, Riccio, Andrea, Sebastio, Gianfranco, Bliek, Jet

Journal:

European Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 172 KB

english, 2005

14

Sulfated 17,20β-Dihydroxy-4-pregnen-3-one Functions as a Potent and Specific Olfactory Stimulant with Pheromonal Actions in the Goldfish

P.W. Sorensen, A.P. Scott, N.E. Stacey, L. Bowdin

Journal:

General and Comparative Endocrinology

Année:

1995

Fichier:

PDF, 663 KB

1995

15

A survey of assisted reproductive technology (ART) births and imprinting disorders

Cathy Allen, Robert F. Harrison, William Reardon, Sarah Bowdin, Louise Brueton, Eamonn Maher

Journal:

American Journal of Obstetrics and Gynecology

Année:

2006

Langue:

english

Fichier:

PDF, 55 KB

english, 2006

16

The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care

Bowdin, Sarah, Ray, Peter N., Cohn, Ronald D., Meyn, M. Stephen

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 398 KB

english, 2014

17

Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

Anderson, J.A., Hayeems, R.Z., Shuman, C., Szego, M.J., Monfared, N., Bowdin, S., Zlotnik Shaul, R., Meyn, M.S.

Journal:

Clinical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 543 KB

english, 2015

18

Loeys–Dietz syndrome: a primer for diagnosis and management

MacCarrick, Gretchen, Black, James H., Bowdin, Sarah, El-Hamamsy, Ismail, Frischmeyer-Guerrerio, Pamela A., Guerrerio, Anthony L., Sponseller, Paul D., Loeys, Bart, Dietz, Harry C.

Journal:

Genetics in Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 485 KB

english, 2014

19

Predictive Genomic Testing of Children for Adult Onset Disorders: A Canadian Perspective

Szego, Michael J., Meyn, M. Stephen, Anderson, James A., Hayeems, Robin, Shuman, Cheryl, Monfared, Nasim, Bowdin, Sarah, Shaul, Randi Zlotnik

Journal:

American Journal of Bioethics

Année:

2014

Langue:

english

Fichier:

PDF, 82 KB

english, 2014

20

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

Lim, D., Bowdin, S. C., Tee, L., Kirby, G. A., Blair, E., Fryer, A., Lam, W., Oley, C., Cole, T., Brueton, L. A., Reik, W., Macdonald, F., Maher, E. R.

Journal:

Human Reproduction

Année:

2008

Langue:

english

Fichier:

PDF, 268 KB

english, 2008

21

The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection

Bradley, Timothy J., Bowdin, Sarah C., Morel, Chantal F.J., Pyeritz, Reed E.

Journal:

Canadian Journal of Cardiology

Année:

2016

Fichier:

PDF, 517 KB

2016

22

Genetic Testing in Thoracic Aortic Disease—When, Why, and How?

Bowdin, Sarah C., Laberge, Anne-Marie, Verstraeten, Aline, Loeys, Bart L.

Journal:

Canadian Journal of Cardiology

Année:

2016

Langue:

english

Fichier:

PDF, 283 KB

english, 2016

23

Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada

Bradley, Timothy J., Bowdin, Sarah C.

Journal:

Canadian Journal of Cardiology

Année:

2016

Langue:

english

Fichier:

PDF, 294 KB

english, 2016

24

Recommendations for the integration of genomics into clinical practice

Bowdin, Sarah, Gilbert, Adel, Bedoukian, Emma, Carew, Christopher, Adam, Margaret P., Belmont, John, Bernhardt, Barbara, Biesecker, Leslie, Bjornsson, Hans T., Blitzer, Miriam, D’Alessandro, Lisa C.A.

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 674 KB

english, 2016

25

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

Vaags, Andrea K., Bowdin, Sarah, Smith, Mary-Lou, Gilbert-Dussardier, Brigitte, Brocke-Holmefjord, Katja S., Sinopoli, Katia, Gilles, Cindy, Haaland, Tove B., Vincent-Delorme, Catherine, Lagrue, Emman

Journal:

Annals of Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 368 KB

english, 2014

26

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement

Chaudhry, Ayeshah, Sabatini, Peter, Han, Liping, Ray, Peter N., Forrest, Christopher, Bowdin, Sarah

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 164 KB

english, 2015

27

Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez???L??pez-Hern??ndez syndrome

Bowdin, Sarah, Phelan, Ethna, Watson, Rosemarie, McCreery, Kathryn M., Reardon, William

Journal:

Clinical Dysmorphology

Année:

2007

Langue:

english

Fichier:

PDF, 274 KB

english, 2007

28

Metachronous Neuroblastoma in an Infant With Germline Translocation Resulting in Partial Trisomy 2p

Morgenstern, Daniel A., Soh, Shui Yen, Stavropoulos, Dimitri J., Bowdin, Sarah, Baruchel, Sylvain, Malkin, David, Meyn, M. Stephen, Irwin, Meredith S.

Journal:

Journal of Pediatric Hematology/Oncology

Année:

2014

Langue:

english

Fichier:

PDF, 137 KB

english, 2014

29

FGFR- associated craniosynostosis syndromes and gastrointestinal defects

Hibberd, Christine E., Bowdin, Sarah, Arudchelvan, Yamini, Forrest, Christopher R., Brakora, Katherine A., Marcucio, Ralph S., Gong, Siew-Ging

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 405 KB

english, 2016

30

The clinical utility of next-generation sequencing in the neonatal intensive care unit

Journal:

Canadian Medical Association Journal

Année:

2016

Langue:

english

Fichier:

PDF, 582 KB

english, 2016

31

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J,

Journal:

npj Genomic Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 589 KB

english, 2016

32

Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?

Anderson, J A, Meyn, M S, Shuman, C, Zlotnik Shaul, R, Mantella, L E, Szego, M J, Bowdin, S, Monfared, N, Hayeems, R Z

Journal:

Journal of Medical Ethics

Année:

2016

Langue:

english

Fichier:

PDF, 173 KB

english, 2016

33

Clinical Genetic Testing in Pediatric Cardiomyopathy: Is Bigger Better?

Ouellette, Allison Chang, Mathew, Jacob, Manickaraj, Ashok Kumar, Manase, George, Zahavich, Laura, Wilson, Judith, George, Kristen, Benson, Lee, Bowdin, Sarah, Mital, Seema

Journal:

Clinical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2017

34

Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease

Zahavich, Laura, Bowdin, Sarah, Mital, Seema

Journal:

Circulation Cardiovascular Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 388 KB

english, 2017

35

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

Cohn, Iris, Paton, Tara A., Marshall, Christian R., Basran, Raveen, Stavropoulos, Dimitri J., Ray, Peter N., Monfared, Nasim, Hayeems, Robin Z., Meyn, M. Stephen, Bowdin, Sarah, Scherer, Stephen W., C

Journal:

npj Genomic Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 741 KB

english, 2017

36

MG-132 Diagnostic utility of whole genome sequencing in paediatric medicine

Marshall, Christian R, Stavropoulos, Dimitri J, Jobling, Rebekah, Merico, Daniele, Bowdin, Sarah, Monfared, Nasim, Meyn, MStephen, Szego, Michael, Shaul, Randi Zlotnik, Thiruvahindrapuram, Bhooma, Pel

Journal:

Journal of Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 46 KB

english, 2015

37

Utility of Genetics for Risk Stratification in Pediatric Hypertrophic Cardiomyopathy

Mathew, J., Zahavich, L., Lafreniere-Roula, M., Wilson, J., George, K., Benson, L., Bowdin, S., Mital, S.

Journal:

Clinical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2017

38

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants

Costain, Gregory, Kannu, Peter, Bowdin, Sarah

Journal:

European Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 759 KB

english, 2017

39

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

Hayeems, Robin Z., Bhawra, Jasmin, Tsiplova, Kate, Meyn, M. Stephen, Monfared, Nasim, Bowdin, Sarah, Stavropoulos, D. James, Marshall, Christian R., Basran, Raveen, Shuman, Cheryl, Ito, Shinya, Cohn,

Journal:

European Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 411 KB

english, 2017

40

Pre-maxillary hypohyperdontia: a report of two cases

Bowdin, L. M., Wong, S., Anthonappa, R. P., King, N. M.

Journal:

European Archives of Paediatric Dentistry

Année:

2018

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2018

41

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Costain, Gregory, Jobling, Rebekah, Walker, Susan, Reuter, Miriam S., Snell, Meaghan, Bowdin, Sarah, Cohn, Ronald D., Dupuis, Lucie, Hewson, Stacy, Mercimek-Andrews, Saadet, Shuman, Cheryl, Sondheimer

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 434 KB

english, 2018

42

A204 FIBRINOGEN STORAGE DISEASE:A CASE SERIES AND LITERATURE REVIEW

Kehar, M, Brandao, L, Bowdin, S, Cutz, E, Ling, S C, Ng, V

Journal:

Journal of the Canadian Association of Gastroenterology

Année:

2018

Langue:

english

Fichier:

PDF, 626 KB

english, 2018

43

MG-130 Utilising whole exome sequencing to identify causative variants in genetically heterogeneous disorders

Stavropoulos, Dimitri J, Marshall, Christian R, Basran, Raveen K, Lau, Lynette, Eliou, Marianne, Orr, Jennifer, Liston, Eriskay J, Bowdin, Sarah, Meyn, MStephen, Carter, Melissa, Carew, Chris, Cohn, R

Journal:

Journal of Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 56 KB

english, 2015

44

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

Hosseini, S. Mohsen, Kim, Raymond, Udupa, Sharmila, Costain, Gregory, Jobling, Rebekah, Liston, Eriskay, Jamal, Seema M., Szybowska, Marta, Morel, Chantal F., Bowdin, Sarah, Garcia, John, Care, Melani

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.24 MB

english, 2018

45

Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics

Szego, M.J., Meyn, M.S., Shuman, C., Zlotnik Shaul, R., Anderson, J.A., Bowdin, S., Monfared, N., Hayeems, R.Z.

Journal:

European Journal of Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 482 KB

english, 2018

46

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H

Journal:

Intensive Care Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2019

47

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

Reuter, Miriam S., Chaturvedi, Rajiv R., Liston, Eriskay, Manshaei, Roozbeh, Aul, Ritu B., Bowdin, Sarah, Cohn, Iris, Curtis, Meredith, Dhir, Priya, Hayeems, Robin Z., Hosseini, S. Mohsen, Khan, Reem,

Journal:

Genetics in Medicine

Année:

2020

Fichier:

PDF, 564 KB

2020

48

Interactions of Communication Partners and Students who are Deaf-Blind: A Model

Heller, K. Wolff, Alberto, P.A., Bowdin, J.

Journal:

Journal of Visual Impairment & Blindness

Année:

1995

Fichier:

PDF, 1.03 MB

1995