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“Essentially” pure trisomy 3q27 → qter: Further delineation of the partial trisomy 3q phenotype JOURNAL ARTICLE published November 2009 in American Journal of Medical Genetics Part A |
American Journal of Medical Genetics Part A: Volume 149A, Number 11, November 2009 JOURNAL ARTICLE published November 2009 in American Journal of Medical Genetics Part A |
Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1) JOURNAL ARTICLE published April 2010 in American Journal of Medical Genetics Part A |
Callosal agenesis and left ventricular hypertrabeculation/noncompaction JOURNAL ARTICLE published May 2010 in American Journal of Medical Genetics Part A |
SACGHS mulls recommendations for genetics training JOURNAL ARTICLE published April 2010 in American Journal of Medical Genetics Part A |
Table of Contents, Volume 149A, Number 8, August 2009 JOURNAL ARTICLE published August 2009 in American Journal of Medical Genetics Part A |
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family JOURNAL ARTICLE published April 2009 in American Journal of Medical Genetics Part A |
Terminal osseous dysplasia and pigmentary defects in a Brazilian girl JOURNAL ARTICLE published 15 October 2008 in American Journal of Medical Genetics Part A |
Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (‐TTAGGG‐)n sequence: Description of the first patient JOURNAL ARTICLE published May 2009 in American Journal of Medical Genetics Part A |
Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 → pter and monosomy 3p26.3 → pter in seven members JOURNAL ARTICLE published 15 December 2008 in American Journal of Medical Genetics Part A |
Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13) JOURNAL ARTICLE published 15 December 2008 in American Journal of Medical Genetics Part A |
JOURNAL ISSUE published December 2005 in American Journal of Medical Genetics Part A |
Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies JOURNAL ARTICLE published March 2009 in American Journal of Medical Genetics Part A |
Encomium to accompany “Living History—Biography: An Undifferentiated Pediatrician” JOURNAL ARTICLE published March 2009 in American Journal of Medical Genetics Part A |
Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association JOURNAL ARTICLE published March 2009 in American Journal of Medical Genetics Part A |
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment JOURNAL ARTICLE published April 2009 in American Journal of Medical Genetics Part A |
American Journal of Medical Genetics Part A: Volume 149A, Number 3, March 2009 JOURNAL ARTICLE published March 2009 in American Journal of Medical Genetics Part A |
Fragile X full mutation alleles composed of few alleles: Implications for CGG repeat expansion JOURNAL ARTICLE published January 2008 in American Journal of Medical Genetics Part A |
Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba JOURNAL ARTICLE published 15 January 2008 in American Journal of Medical Genetics Part A |
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata JOURNAL ARTICLE published 15 April 2008 in American Journal of Medical Genetics Part A |