Search Results

There are 8954 results for: content related to: A Late-18th-Century Merchantman Wrecked in the S outh E dinburgh C hannel, T hames E stuary, E ngland

  1. Identification of fibroblast growth factor 1 (FGF-1) in a black market product

    Drug Testing and Analysis

    Volume 3, Issue 11-12, November-December 2011, Pages: 791–797, Katja Walpurgis, Andreas Thomas, Tim Laussmann, Luis Horta, Sabine Metzger, Wilhelm Schänzer and Mario Thevis

    Article first published online : 13 OCT 2011, DOI: 10.1002/dta.364

  2. You have free access to this content
    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

    Article first published online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36416

  3. Modeling AEC—New approaches to study rare genetic disorders

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2443–2454, Peter J. Koch, Jason Dinella, Mary Fete, Elaine C. Siegfried and Maranke I. Koster

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36455

  4. Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson–Golabi–Behmel syndrome and germline GPC3 mutation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 993–997, Rika Kosaki, Toshiki Takenouchi, Noriko Takeda, Masayo Kagami, Kazuhiko Nakabayashi, Kenichiro Hata and Kenjiro Kosaki

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36364

  5. Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1151–1161, Tasneem Fatima, Syed Aley Hasan Zaidi, Noorjehan Sarfraz, Siddiqa Perween, Faraz Khurshid and Fauzia Imtiaz

    Article first published online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36423

  6. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1443–1453, Piranit Nik Kantaputra, Hulya Kayserili, Yeliz Guven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Napaporn Tananuvat, Anusha Uttarilli and Ashwin Dalal

    Article first published online : 27 MAR 2014, DOI: 10.1002/ajmg.a.36489

  7. Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1180–1187, Misako Naiki, Nobuhiko Ochi, Yusuke S. Kato, Jamiyan Purevsuren, Kenichiro Yamada, Reiko Kimura, Daisuke Fukushi, Shinya Hara, Yasukazu Yamada, Toshiyuki Kumagai, Seiji Yamaguchi and Nobuaki Wakamatsu

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36434

  8. Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1310–1317, Daphné Lehalle, Damien Sanlaville, Anne Guimier, Emmanuel Plouvier, Thierry Leblanc, Louise Galmiche, Isabelle Radford, Serge Romana, Laurence Colleaux, Loïc de Pontual, Stanislas Lyonnet and Jeanne Amiel

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36452

  9. Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1530–1536, Pauline Le Tanno, Brice Poreau, Francoise Devillard, Gaëlle Vieville, Florence Amblard, Pierre-Simon Jouk, Véronique Satre and Charles Coutton

    Article first published online : 19 MAR 2014, DOI: 10.1002/ajmg.a.36467

  10. The historical Coffin–Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2172–2179, Hiromi Koso Nishimoto, Kyungsoo Ha, Julie R. Jones, Alka Dwivedi, Hyun-Min Cho, Lawrence C. Layman and Hyung-Goo Kim

    Article first published online : 7 JUL 2014, DOI: 10.1002/ajmg.a.36488

  11. You have free access to this content
    Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 966–974, Maoqing Ye, Fabienne Parente, Xiaodong Li, M. Benjamin Perryman, Leopoldo Zelante, Anthony Wynshaw-Boris, Ju Chen and Paul Grossfeld

    Article first published online : 10 MAR 2014, DOI: 10.1002/ajmg.a.36441

  12. Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1118–1126, Hussam Al-Kateb, Geetika Khanna, Isabel Filges, Natalie Hauser, Dorothy K. Grange, Joseph Shen, Christopher D. Smyser, Shashikant Kulkarni and Marwan Shinawi

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36401

  13. Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1454–1463, Mary M. Jenkins, Jennita Reefhuis, Margaret L. Gallagher, Jennifer G. Mulle, Thomas J. Hoffmann, Deborah A. Koontz, Cynthia Sturchio, Sonja A. Rasmussen, John S. Witte, Patricia Richter, Margaret A. Honein and the National Birth Defects Prevention Study

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36478

  14. Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1143–1150, María Valencia, Jose A. Caparrós-Martin, María Salomé Sirerol-Piquer, José Manuel García-Verdugo, Víctor Martínez-Glez, Pablo Lapunzina, Samia Temtamy, Mona Aglan, Allan M. Lund, Peter G. J. Nikkels, Victor L. Ruiz-Perez and Elsebet Ostergaard

    Article first published online : 19 MAR 2014, DOI: 10.1002/ajmg.a.36427

  15. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1136–1142, Encarna Guillén-Navarro, María Juliana Ballesta-Martínez, María Valencia, Ana María Bueno, Victor Martinez-Glez, Vanesa López-González, Birute Burnyte, Algirdas Utkus, Pablo Lapunzina and Victor L. Ruiz-Perez

    Article first published online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36409

  16. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1537–1544, Alice Masurel-Paulet, Isabelle Drumare, Muriel Holder, Jean-Marie Cuisset, Louis Vallée, Sabine Defoort, Béatrice Bourgois, Philippe Pernes, Jean-Christophe Cuvellier, Frédéric Huet, Salima El Chehadeh, Julien Thevenon, Patrick Callier, Christel Thauvin, Laurence Faivre and Joris Andrieux

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36471

  17. Craniofacial and dental development in Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1425–1430, Alice F. Goodwin, Snehlata Oberoi, Maya Landan, Cyril Charles, Jessica C. Massie, Cecilia Fairley, Katherine A. Rauen and Ophir D. Klein

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36475

  18. A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1587–1594, Lindsay A. Brown, Rosemarie Rupps, Maria S. Peñaherrera, Wendy P. Robinson, Millan S. Patel, Patrice Eydoux and Cornelius F. Boerkoel

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36490

  19. The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1204–1208, Fernanda T. Gonçalves, Cintia Fridman, Emília M. Pinto, Jaime Guevara-Aguirre, Orit Shevah, Arlan L. Rosembloom, Vivian Hwa, Fernando Cassorla, Ron G. Rosenfeld, Theresa S.S. Lins, Durval Damiani, Ivo J.P. Arnhold, Zvi Laron and Alexander A.L. Jorge

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36444

  20. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1482–1489, Joshi Stephen, Anju Shukla, Ashwin Dalal, Katta Mohan Girisha, Hitesh Shah, Neerja Gupta, Madhulika Kabra, Preeti Dabadghao and Shubha R. Phadke

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36481