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American Journal of Medical Genetics. Part A|February 27, 2010
c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patientPranoot Tanpaiboon, Piranit Kantaputra, Karn Wejathikul, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndromeElizabeth I Pierpont, Mary Ella Pierpont, Nancy J Mendelsohn, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasiaAllison Zajac, Seung-Hak Baek, Imad Salhab, et al.American Journal of Medical Genetics. Part A|February 27, 2010
The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathyJolien S Ruiter, Karin Berkenbosch-Nieuwhof, Maarten P van den Berg, et al.American Journal of Medical Genetics. Part A|January 19, 2010
An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotypeMerlin G Butler, Douglas C Bittel, Nataliya Kibiryeva, et al.American Journal of Medical Genetics. Part A|January 19, 2010
FBN1 mutations in patients with descending thoracic aortic dissectionsAriel Brautbar, Scott A LeMaire, Luis M Franco, et al.American Journal of Medical Genetics. Part A|January 19, 2010
A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic featuresJohannes G Dauwerse, Claudia A Ruivenkamp, Kerstin Hansson, et al.American Journal of Medical Genetics. Part A|January 19, 2010
Methylation profiling in individuals with Russell-Silver syndromeMaria S Peñaherrera, Susanne Weindler, Margot I Van Allen, et al.American Journal of Medical Genetics. Part A|November 12, 2005
Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyeloceleK-S Au, H Northrup, T J Kirkpatrick, et al.American Journal of Medical Genetics. Part A|November 12, 2005
Epidemiology of hemimegalencephaly: a case series and reviewBrad T Tinkle, Elizabeth K Schorry, David N Franz, et al.Pageof 929