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Pediatric Cardiology|March 27, 2012
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndromeJamal Mahamid, Avraham Lorber, Yoseph Horovitz, et al.Journal of Human Genetics|November 5, 2024
The distribution of regions of homozygosity (ROH) among consanguineous populations-implications for a routine genetic counseling serviceChen Gafni-Amsalem, Nasim Warwar, Morad Khayat, et al.Annals of Hepatology|December 3, 2015
Early allograft dysfunction after liver transplantation: an intermediate outcome measure for targeted improvementsDavid D Lee, Kristopher P Croome, Jefree A Shalev, et al.European Journal of Human Genetics : EJHG|September 17, 2020
Homozygote loss-of-function variants in the human COCH gene underlie hearing lossNada Danial-Farran, Elena Chervinsky, Prathamesh T Nadar-Ponniah, et al.Journal of Child Neurology|September 24, 2014
A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutationRachel Straussberg, Daphna Marom, Esther Sanado-Inbar, et al.Molecular Vision|January 6, 2012
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1Leah Rizel, Christine Safieh, Stavit A Shalev, et al.Transplant Infectious Disease : an Official Journal of the Transplantation Society|January 22, 2013
Evaluation of risk factors for cytomegalovirus infection and disease occurring within 1 year of liver transplantation in high-risk patientsJ G Katsolis, W Bosch, M G Heckman, et al.Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|June 25, 2019
Evolving Role of Liver Transplantation in Elderly RecipientsOmar Y Mousa, Justin H Nguyen, Yaohua Ma, et al.European Journal of Human Genetics : EJHG|November 28, 2013
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyRonen Spiegel, Ann Saada, Jonatan Halvardson, et al.European Journal of Medical Genetics|November 13, 2012
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritanceDiana M Walsh, Stavit A Shalev, Michael A Simpson, et al.Pageof 25