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Pediatrics|January 5, 2006
Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT geneNaomi Weintrob, Jacques Drouin, Sophie Vallette-Kasic, 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.The International Journal of Cardiovascular Imaging|May 13, 2024
Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?Livia Kapusta, Gil Beer, Ehud Rothschild, et al.European Journal of Human Genetics : EJHG|April 10, 2021
Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestationsMoran Hausman-Kedem, Liat Ben-Sira, Debora Kidron, et al.Journal of Neurology|April 16, 2024
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosisDalit Barel, Daphna Marom, Penina Ponger, et al.American Journal of Medical Genetics. Part A|February 23, 2021
The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?Idit Maya, Sarit Kahana, Ifaat Agmon-Fishman, et al.American Journal of Human Genetics|September 8, 2009
Acute infantile liver failure due to mutations in the TRMU geneAvraham Zeharia, Avraham Shaag, Orit Pappo, et al.Telemedicine Journal and E-Health : the Official Journal of the American Telemedicine Association|November 9, 2023
Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction RatesUri Hamiel, Audelia Eshel Fuhrer, Nitsan Landau, et al.American Journal of Medical Genetics. Part A|June 9, 2016
Is one diagnosis the whole story? patients with double diagnosesAlina Kurolap, Naama Orenstein, Inbal Kedar, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 2, 2023
Utility of genetic testing in children with leukodystrophyAyelet Zerem, Stephanie Libzon, Liat Ben Sira, et al.Pageof 4