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American Journal of Medical Genetics. Part A|March 26, 2018
A homozygous TTN gene variant associated with lethal congenital contracture syndromeElena Chervinsky, Morad Khayat, Sofia Soltsman, et al.American Journal of Medical Genetics. Part A|March 26, 2018
Low serum fatty acid levels in pregnancies with fetal gastroschisis: A prospective studySandra F Centofanti, Rossana P V Francisco, Sonia T Phillippi, et al.American Journal of Medical Genetics. Part A|March 26, 2018
First-year growth in children with Noonan syndrome: Associated with feeding problems?Ellen A Croonen, Jos M T Draaisma, Ineke van der Burgt, et al.American Journal of Medical Genetics. Part A|March 26, 2018
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndromeJohannes Birgmeier, Edward D Esplin, Karthik A Jagadeesh, et al.American Journal of Medical Genetics. Part A|November 23, 2007
The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reportsMeredith Wilson, Gregory Peters, Bruce Bennetts, et al.American Journal of Medical Genetics. Part A|August 2, 2008
Molecular study of 33 families with Fraser syndrome new data and mutation reviewM M van Haelst, M Maiburg, G Baujat, et al.American Journal of Medical Genetics. Part A|May 15, 2009
Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literatureMarlene T Anderka, Angela E Lin, Dianne N Abuelo, et al.American Journal of Medical Genetics. Part A|April 28, 2009
A CDKL5 mutated child with precocious pubertyVeronica Saletti, Laura Canafoglia, Paola Cambiaso, et al.American Journal of Medical Genetics. Part A|April 28, 2009
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA proteinAlzbeta Vazna, Clare Beesley, Linda Berna, et al.American Journal of Medical Genetics. Part A|April 14, 2009
Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?Anna Ficcadenti, Lucia Santoro, Valeria Petroni, et al.Pageof 929