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American Journal of Medical Genetics. Part A|July 5, 2014
Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disordersBrett M Martin, Margarita H Ivanova, Anna Sarukhanov, et al.American Journal of Medical Genetics. Part A|November 22, 2012
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1Christopher P Barnett, Justin J Mencel, Jozef Gecz, et al.American Journal of Medical Genetics. Part A|June 9, 2012
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutationPiranit Nik Kantaputra, Ans van den Ouweland, Tumtip Sangruchi, et al.American Journal of Medical Genetics. Part A|June 9, 2012
De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomaliesAnne Gregor, Mandy Krumbiegel, Cornelia Kraus, et al.American Journal of Medical Genetics. Part A|June 9, 2012
Scoliosis in Prader-Willi syndrome: effect of growth hormone therapy and value of paravertebral muscle volume by CT in predicting scoliosis progressionNobuyuki Murakami, Kazuo Obata, Yoshiko Abe, et al.American Journal of Medical Genetics. Part A|May 26, 2012
Hearing loss in skeletal dysplasia patientsDavid Tunkel, Yewande Alade, Richard Kerbavaz, et al.American Journal of Medical Genetics. Part A|May 26, 2012
Phenotypic progression of skeletal anomalies in CLOVES syndromeSteven Klein, Albert Stroberg, Shahnaz Ghahremani, et al.American Journal of Medical Genetics. Part A|November 21, 2012
Clinical geneticists' views of VACTERL/VATER associationBenjamin D Solomon, Kelly A Bear, Virginia Kimonis, et al.American Journal of Medical Genetics. Part A|November 21, 2012
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutationsJun-ichi Takanashi, Nobuhiko Okamoto, Yuto Yamamoto, et al.American Journal of Medical Genetics. Part A|November 21, 2012
Congenital high airway obstruction sequence (CHAOS): a new case and a review of phenotypic featuresErica Sanford, Payam Saadai, Hanmin Lee, et al.Pageof 928