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American Journal of Medical Genetics. Part A|May 14, 2011
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palatePiranit N Kantaputra, Sutti Malaivijitnond, Alexandre R Vieira, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephalyIan M Campbell, Katarzyna E Kolodziejska, Michael M Quach, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
The relationship between the genetic counseling profession and the disability community: a commentaryAnne C Madeo, Barbara B Biesecker, Campbell Brasington, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCREmily Spencer, Julia Davis, Fady Mikhail, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?Nadia A Akawi, Bassam R Ali, Hanan Hamamy, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13CKaren W Gripp, Elizabeth Hopkins, Katia Sol-Church, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disordersBrian Chung, Lisa G Shaffer, Sarah Keating, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)Kim M Keppler-Noreuil, Margaret P Adam, Judy Welch, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndromeAndré Mégarbané, Eliane Chouery, Cécile Mignon-Ravix, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
der(4)t(Y;4): Three-generation transmission and sperm meiotic segregation analysisMiluse Vozdova, Vera Horinova, Vendula Wernerova, et al.
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