Search Results

There are 15677 results for: content related to: Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

  1. 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

  2. X-linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1414–1420, Lidia Pezzani, Michela Brena, Michele Callea, Marina Colombi and Gianluca Tadini

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35882

  3. 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

  4. Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1806–1812, Kristina Orendi, Sabine Uhrig, Monika Mach, Petra Tschepper and Michael R. Speicher

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35986

  5. Familial trisomy 6p in mother and daughter

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1675–1681, Marco Savarese, Anna Grandone, Lucia Perone, Francesca Del Vecchio Blanco, Giuseppina De Luca, Giuseppina Di Fruscio, Giuseppina Fogu, Giulio Piluso, Laura Perrone, Emanuele Miraglia del Giudice and Vincenzo Nigro

    Version of Record online : 17 MAY 2013, DOI: 10.1002/ajmg.a.35928

  6. A second family with autosomal recessive spondylometaphyseal dysplasia and early death

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1010–1014, André Mégarbané, Cybel Mehawej, Amir El Zahr, Soha Haddad and Valérie Cormier-Daire

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36372

  7. Fraser Syndrome: Epidemiological Study in a European Population

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1012–1018, Ingeborg Barisic, Ljubica Odak, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman, Sebastiano Bianca, Patricia A. Boyd, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Anna Latos-Bielenska, Bob McDonnell, Anna Pierini, Judith Rankin, Anke Rissmann, Annette Queisser-Luft, Christine Verellen-Dumoulin, David Stone and Romano Tenconi

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35839

  8. 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

  9. 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

  10. 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

  11. Tissue formation and tissue engineering through host cell recruitment or a potential injectable cell-based biocomposite with replicative potential: Molecular mechanisms controlling cellular senescence and the involvement of controlled transient telomerase activation therapies

    Journal of Biomedical Materials Research Part A

    Volume 103, Issue 12, December 2015, Pages: 3993–4023, Mark A. Babizhayev and Yegor E. Yegorov

    Version of Record online : 14 AUG 2015, DOI: 10.1002/jbm.a.35515

  12. You have free access to this content
    The applications of conductive nanomaterials in the biomedical field

    Journal of Biomedical Materials Research Part A

    Volume 104, Issue 1, January 2016, Pages: 322–339, Xiaoming Li, Tianxiao Zhao, Lianwen Sun, Katerina E. Aifantis, Yubo Fan, Qingling Feng, Fuzhai Cui and Fumio Watari

    Version of Record online : 8 AUG 2015, DOI: 10.1002/jbm.a.35537

  13. Simpson–Golabi–Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2–4 Duplication of the GPC3 Gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1091–1095, Dr. María Elena Mateos, Katrin Beyer, Eduardo López-Laso, Juan López Siles, Juan Luis Pérez-Navero, María José Peña, Juana Guzmán and Juliana Matas

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35738

  14. 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

  15. Polycaprolactone/starch composite: Fabrication, structure, properties, and applications

    Journal of Biomedical Materials Research Part A

    Volume 103, Issue 7, July 2015, Pages: 2482–2498, Soheila Ali Akbari Ghavimi, Mohammad H. Ebrahimzadeh, Mehran Solati-Hashjin and Noor Azuan Abu Osman

    Version of Record online : 3 DEC 2014, DOI: 10.1002/jbm.a.35371

  16. Biomineralized hydroxyapatite nanoclay composite scaffolds with polycaprolactone for stem cell-based bone tissue engineering

    Journal of Biomedical Materials Research Part A

    Volume 103, Issue 6, June 2015, Pages: 2077–2101, Avinash H. Ambre, Dinesh R. Katti and Kalpana S. Katti

    Version of Record online : 21 OCT 2014, DOI: 10.1002/jbm.a.35342

  17. Interstitial Duplication of 2q32.1–q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1078–1084, Daisuke Usui, Shino Shimada, Keiko Shimojima, Midori Sugawara, Hajime Kawasaki, Hideo Shigematu, Yukitoshi Takahashi, Yushi Inoue, Katsumi Imai and Toshiyuki Yamamoto

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35679

  18. You have free access to this content
    Extracellular matrix elasticity and topography: Material-based cues that affect cell function via conserved mechanisms

    Journal of Biomedical Materials Research Part A

    Volume 103, Issue 3, March 2015, Pages: 1246–1258, Isaac A. Janson and Andrew J. Putnam

    Version of Record online : 16 JUN 2014, DOI: 10.1002/jbm.a.35254

  19. 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

  20. Modified porous scaffolds of silk fibroin with mimicked microenvironment based on decellularized pulp/fibronectin for designed performance biomaterials in maxillofacial bone defect

    Journal of Biomedical Materials Research Part A

    Volume 105, Issue 6, June 2017, Pages: 1624–1636, Supaporn Sangkert, Suttatip Kamonmattayakul, Wen Lin Chai and Jirut Meesane

    Version of Record online : 27 MAR 2017, DOI: 10.1002/jbm.a.35983