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There are 9761 results for: content related to: “If it helps …” the use of microarray technology in prenatal testing: Patient and partners reflections

  1. 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

  2. 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

  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. 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. 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

  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. 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

  8. You have full text access to this OnlineOpen article
    Frederik Ruysch (1638–1731): Historical perspective and contemporary analysis of his teratological legacy

    American Journal of Medical Genetics Part A

    Volume 173, Issue 1, January 2017, Pages: 16–41, Lucas Boer, Anna B. Radziun and Roelof-Jan Oostra

    Version of Record online : 29 APR 2016, DOI: 10.1002/ajmg.a.37663

  9. Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1531–1542, Tomoki Kosho, Hideo Kuniba, Yuko Tanikawa, Yoko Hashimoto and Hiroko Sakurai

    Version of Record online : 29 MAY 2013, DOI: 10.1002/ajmg.a.35990

  10. Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Nonsyndromic CL(P)

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 965–972, Azeez Butali, Satoshi Suzuki, Margaret E. Cooper, Adela M. Mansilla, Karen Cuenco, Elizabeth J. Leslie, Yasushi Suzuki, Teruyuki Niimi, Masahiko Yamamoto, Gongorjav Ayanga, Tudevdorj Erkhembaatar, Hiroo Furukawa, Kumiko Fujiwawa, Hideto Imura, Aline L. Petrin, Nagato Natsume, Terri H. Beaty, Mary L. Marazita and Jeffery C. Murray

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35749

  11. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1950–1960, Elena Vallespín, María Palomares Bralo, M. Ángeles Mori, Rubén Martín, Sixto García-Miñaúr, Luis Fernández, M. Luisa de Torres, Fe García-Santiago, Elena Mansilla, Fernando Santos, Victoria E. M-Montaño, M. Carmen Crespo, Sol Martín, Victor Martínez-Glez, Alicia Delicado, Pablo Lapunzina and Julián Nevado

    Version of Record online : 24 JUN 2013, DOI: 10.1002/ajmg.a.35960

  12. Chimerism in monochorionic dizygotic twins: Case study and review

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1817–1824, Kristen Chen, Ramen H. Chmait, Douglas Vanderbilt, Samuel Wu and Linda Randolph

    Version of Record online : 22 MAY 2013, DOI: 10.1002/ajmg.a.35957

  13. Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1036–1043, Young Bae Sohn, Jeehun Lee, Sung Yoon Cho, Su Jin Kim, Ah-Ra Ko, Mi Hyun Nam and Dong-Kyu Jin

    Version of Record online : 25 MAR 2013, DOI: 10.1002/ajmg.a.35869

  14. Genetic advances in craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 173, Issue 5, May 2017, Pages: 1406–1429, Wanda Lattanzi, Marta Barba, Lorena Di Pietro and Simeon A. Boyadjiev

    Version of Record online : 4 FEB 2017, DOI: 10.1002/ajmg.a.38159

  15. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1833–1852, Cynthia J. Curry, Jill A. Rosenfeld, Erica Grant, Karen W. Gripp, Carol Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, Michelle Falco, Christina Fels, Marco Fichera, Jesper Graakjaer, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene Huggins, Roger Ladda, Chumei Li, John Moeschler, Malgorzata J.M. Nowaczyk, Jillian R. Ozmore, Santina Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark Tarnopolsky, Raymond Tervo, Anne Chun-Hui Tsai, Megan Tucker, Stephanie Vallee, Ferrin C Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer and William B. Dobyns

    Version of Record online : 27 JUN 2013, DOI: 10.1002/ajmg.a.35996

  16. Reduces Bone Mass as in Human Apert Syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 983–992, Xia Zhou, Dongquan Pu, Ri Liu, Xiangjie Li, Xiujie Wen, Li Zhang, Lin Chen, Manjing Deng and Luchuan Liu

    Version of Record online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35824

  17. 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

  18. 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

  19. Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1329–1338, David J. Bunyan, Kevin R. Baker, John F. Harvey and N. Simon Thomas

    Version of Record online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35919

  20. Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1585–1593, Kyle B. Jones, Alice F. Goodwin, Maya Landan, Kerstin Seidel, Dong-Kha Tran, Jacob Hogue, Miquella Chavez, Mary Fete, Wenli Yu, Tarek Hussein, Ramsey Johnson, Kenneth Huttner, Andrew H. Jheon and Ophir D. Klein

    Version of Record online : 17 MAY 2013, DOI: 10.1002/ajmg.a.35959