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There are 84410 results for: content related to: Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the united kingdom

  1. You have full text access to this OnlineOpen article
    Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

    Prenatal Diagnosis

    Volume 36, Issue 7, July 2016, Pages: 636–642, Talitha I. Verhoef, Melissa Hill, Suzanne Drury, Sarah Mason, Lucy Jenkins, Stephen Morris and Lyn S. Chitty

    Version of Record online : 22 MAY 2016, DOI: 10.1002/pd.4832

  2. Non-invasive prenatal diagnosis for single gene disorders: experience of patients

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 336–342, C. Lewis, M. Hill and L.S. Chitty

    Version of Record online : 27 MAY 2013, DOI: 10.1111/cge.12179

  3. Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2274–2280, M.M. Al-Qattan

    Version of Record online : 6 AUG 2013, DOI: 10.1002/ajmg.a.35437

  4. You have full text access to this OnlineOpen article
    LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1599–1611, Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

    Version of Record online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  5. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1666–1674, Andrea Van Lierde, Francesca Menni, Maria Francesca Bedeschi, Federica Natacci, Sophie Guez, Paola Vizziello, Maria Antonella Costantino, Faustina Lalatta and Susanna Esposito

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35982

  6. Pediatric glaucoma terminology

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3205–3215, Anuradha Ganesh, Dang Tam Mai and Alex V. Levin

    Version of Record online : 18 SEP 2013, DOI: 10.1002/ajmg.a.35205

  7. Elements of morphology: Standard terminology for the external genitalia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1238–1263, Raoul C.M. Hennekam, Judith E. Allanson, Leslie G. Biesecker, John C. Carey, John M. Opitz and Eric Vilain

    Version of Record online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  8. Corpus Callosum Shape Is Altered in Individuals With Nonsyndromic Cleft Lip and Palate

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1002–1007, Seth M. Weinberg, Trish E. Parsons, Melissa R. Fogel, Courtney P. Walter, Amy L. Conrad and Peg Nopoulos

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35835

  9. If not Angelman, what is it? a review of Angelman-like syndromes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 975–992, Wen-Hann Tan, Lynne M. Bird, Ronald L. Thibert and Charles A. Williams

    Version of Record online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36416

  10. Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1726–1732, Eric T. Rush, Jadd M. Stevens, Warren G. Sanger and Ann H. Olney

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35951

  11. Development of the human aortic arch system captured in an interactive three-dimensional reference model

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1372–1383, M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels and Antoon F.M. Moorman

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

  12. Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1345–1353, Kelly N. Evans, Joseph S. Gruss, Paritosh C. Khanna, Michael L. Cunningham, Timothy C. Cox and Anne V. Hing

    Version of Record online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35926

  13. Development of the human heart

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1347–1371, Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  14. You have free access to this content
    The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

    Prenatal Diagnosis

    Volume 33, Issue 6, June 2013, Pages: 555–562, Nicholas Lench, Angela Barrett, Sarah Fielding, Fiona McKay, Melissa Hill, Lucy Jenkins, Helen White and Lyn S. Chitty

    Version of Record online : 17 MAY 2013, DOI: 10.1002/pd.4124

  15. Delineation of a region responsible for panhypopituitarism in 20p11.2

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1547–1554, Manal Dayem-Quere, Fabienne Giuliano, Kathy Wagner-Mahler, Christophe Massol, Letizia Crouzet-Ozenda, Jean-Claude Lambert and Houda Karmous-Benailly

    Version of Record online : 8 MAY 2013, DOI: 10.1002/ajmg.a.35921

  16. Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses

    American Journal of Medical Genetics Part A

    Volume 173, Issue 1, January 2017, Pages: 157–162, Akira Ohishi, Gen Nishimura, Fumiko Kato, Hiroyuki Ono, Kaori Maruwaka, Mako Ago, Hiroshi Suzumura, Etsuko Hirose, Yuki Uchida, Maki Fukami and Tsutomu Ogata

    Version of Record online : 28 SEP 2016, DOI: 10.1002/ajmg.a.37992

  17. A comprehensive review of genetic and epigenetic mechanisms that regulate BDNF expression and function with relevance to major depressive disorder

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Benjamin Hing, Leela Sathyaputri and James B. Potash

    Version of Record online : 15 DEC 2017, DOI: 10.1002/ajmg.b.32616

  18. Preferential Associated Anomalies in 818 Cases of Microtia in South America

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1051–1057, Daniela V. Luquetti, Timothy C. Cox, Jorge Lopez-Camelo, Maria da Graça Dutra, Michael L. Cunningham and Eduardo E. Castilla

    Version of Record online : 29 MAR 2013, DOI: 10.1002/ajmg.a.35888

  19. Imaging genetics in neurodevelopmental psychopathology

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 174, Issue 5, July 2017, Pages: 485–537, Marieke Klein, Marjolein van Donkelaar, Ellen Verhoef and Barbara Franke

    Version of Record online : 15 JUN 2017, DOI: 10.1002/ajmg.b.32542

  20. You have free access to this content
    The Ehlers–Danlos syndromes, rare types

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

    Volume 175, Issue 1, March 2017, Pages: 70–115, Angela F. Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F. Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke and Fransiska Malfait

    Version of Record online : 17 MAR 2017, DOI: 10.1002/ajmg.c.31550