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There are 2036 results for: content related to: Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX 3 Expression

  1. 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

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  2. 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

    Article first published online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

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    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

    Article first published online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  4. 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

    Article first published online : 18 SEP 2013, DOI: 10.1002/ajmg.a.35205

  5. 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

    Article first published online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35835

  6. 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

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

  7. 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

    Article first published online : 6 AUG 2013, DOI: 10.1002/ajmg.a.35437

  8. 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

    Article first published online : 8 MAY 2013, DOI: 10.1002/ajmg.a.35921

  9. Summarizing craniofacial genetics and developmental biology (SCGDB)

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 884–891, Brian K. Hall

    Article first published online : 30 JAN 2014, DOI: 10.1002/ajmg.a.35288

  10. 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

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35926

  11. 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

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35951

  12. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1447–1452, Else la Cour Sibbesen, Cathrine Jespersgaard, Daniela Alosi, Anne-Marie Bisgaard and Zeynep Tümer

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35901

  13. Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1425–1431, Rachel Vanneste, Erika Smith and Gail Graham

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35884

  14. 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

    Article first published online : 24 JUN 2013, DOI: 10.1002/ajmg.a.35960

  15. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1354–1369, José A. Caparrós-Martin, María Valencia, Veronica Pulido, Victor Martínez-Glez, Inmaculada Rueda-Arenas, Khalda Amr, Chantal Farra, Pablo Lapunzina, Victor L. Ruiz-Perez, Samia Temtamy and Mona Aglan

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35938

  16. Hemifacial microsomia in cat-eye syndrome: 22q11.1–q11.21 as candidate loci for facial symmetry

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1985–1991, Fabiola Quintero-Rivera and Julian A. Martinez-Agosto

    Article first published online : 21 JUN 2013, DOI: 10.1002/ajmg.a.35895

  17. 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

    Article first published online : 22 MAY 2013, DOI: 10.1002/ajmg.a.35957

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    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

    Article first published online : 29 MAY 2013, DOI: 10.1002/ajmg.a.35990

  19. A de novo GLI3 mutation in a patient with acrocallosal syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1394–1400, Leonie Speksnijder, Titia E. Cohen-Overbeek, Maarten F.C.M. Knapen, Simone M. Lunshof, A. Jeannette M. Hoogeboom, Ans M. van den Ouwenland, Irenaneus F.M. de Coo, Maarten H. Lequin, Hanno J. Bolz, Carsten Bergmann, Leslie G. Biesecker, Patrick J. Willems and Marja W. Wessels

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35874

  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

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35909