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There are 9731 results for: content related to: Two is better than one: A case of homozygous myotonic dystrophy type 1

  1. Anticipation in myotonic dystrophy type 1 parents with small CTG expansions

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 708–714, Annabelle Pratte, Claude Prévost, Jack Puymirat and Jean Mathieu

    Version of Record online : 25 FEB 2015, DOI: 10.1002/ajmg.a.36950

  2. Review of familial cerebral cavernous malformations and report of seven additional families

    American Journal of Medical Genetics Part A

    Volume 173, Issue 2, February 2017, Pages: 338–351, Ivo J. H. M. de Vos, Maaike Vreeburg, Ger H. Koek and Maurice A. M. van Steensel

    Version of Record online : 28 OCT 2016, DOI: 10.1002/ajmg.a.38028

  3. Amyoplasia revisited

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 700–730, Judith G. Hall, Kimberly A. Aldinger and Kimi I. Tanaka

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  4. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  5. Etiologies of uterine malformations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2141–2172, Adeline Jacquinet, Debra Millar and Anna Lehman

    Version of Record online : 8 JUN 2016, DOI: 10.1002/ajmg.a.37775

  6. Embryonic left–right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3095–3114, Kun Ma

    Version of Record online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  7. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2989–3004, Marco Castori, Silvia Morlino, Claudia Celletti, Giulia Ghibellini, Michela Bruschini, Paola Grammatico, Carlo Blundo and Filippo Camerota

    Version of Record online : 6 NOV 2013, DOI: 10.1002/ajmg.a.36315

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    Fragile X syndrome: From protein function to therapy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2809–2821, Claudia Bagni and Ben A. Oostra

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36241

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    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

  10. 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

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    Annals of morphology. Atavisms: Phylogenetic lazarus?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2822–2835, Ginevra Zanni and John M. Opitz

    Version of Record online : 8 OCT 2013, DOI: 10.1002/ajmg.a.36234

  12. Autism and epistemology IV: Does autism need a theory of mind?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2464–2480, Gene S. Fisch

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36135

  13. Angelman syndrome in adulthood

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 331–344, Anna M. Larson, Julianna E. Shinnick, Elias A. Shaaya, Elizabeth A. Thiele and Ronald L. Thibert

    Version of Record online : 26 NOV 2014, DOI: 10.1002/ajmg.a.36864

  14. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1882–1896, Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover and Catherine E. Keegan

    Version of Record online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36018

  15. Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups

    American Journal of Medical Genetics Part A

    Volume 170, Issue 9, September 2016, Pages: 2248–2260, Saskia M. Maas, Fleur Vansenne, Daniel J. M. Kadouch, Abdulla Ibrahim, Jet Bliek, Saskia Hopman, Marcel M. Mannens, Johannes H. M. Merks, Eamonn R. Maher and Raoul C. Hennekam

    Version of Record online : 15 JUL 2016, DOI: 10.1002/ajmg.a.37801

  16. Compound heterozygous myotonic dystrophy type 1

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1952–1953, Josef Finsterer and Sinda Zarrouk-Mahjoub

    Version of Record online : 22 MAY 2015, DOI: 10.1002/ajmg.a.36798

  17. Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 1989–2001, Beatrice De Maria, Laura Mazzanti, Nathalie Roche and Raoul C. Hennekam

    Version of Record online : 19 MAY 2016, DOI: 10.1002/ajmg.a.37757

  18. 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

  19. Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1291–1299, Agnieszka Jurecka, Ekaterina Zakharova, Loreta Cimbalistiene, Nina Gusina, Anna Kulpanovich, Adam Golda, Violetta Opoka-Winiarska, Ewa Piotrowska, Elena Voskoboeva and Anna Tylki-Szymańska

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35905

  20. Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1309–1318, Anthony P.Y. Liu, Wing Fai Tang, Elizabeth T. Lau, Kelvin Y.K. Chan, Anita S.Y. Kan, Kar Yin Wong, Winnie W.Y. Tso, Khair Jalal, So Lun Lee, Christy S.K. Chau and Brian H.Y. Chung

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35909