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American Journal of Medical Genetics. Part A|July 10, 2019
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two casesRachel Rabin, Yoel Hirsch, Martin M Johansson, et al.
The Journal of Pediatrics|July 1, 1988
Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18R W Marion, D Chitayat, R G Hutcheon, et al.
The Journal of Pediatrics|December 1, 1978
Neonatal presentation of I-cell diseaseR A Sprigz, R A Doughty, T J Spackman, et al.
American Journal of Medical Genetics. Part A|February 26, 2004
Long-term follow-up of three individuals with Kabuki syndromeStavit A Shalev, Lorne A Clarke, David Koehn, et al.
Genes|September 23, 2022
A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion SyndromeSteven Pastor, Oanh Tran, Daniel E McGinn, et al.
American Journal of Medical Genetics. Part A|May 25, 2023
TOPORS as a novel causal gene for Joubert syndromeAlanna Strong, Hui-Qi Qu, Sinéad Cullina, et al.
American Journal of Medical Genetics. Part A|August 5, 2017
A human case of SLC35A3-related skeletal dysplasiaAndrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, et al.
Human Genetics|November 1, 1988
Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic maleM Münke, D C Page, L G Brown, et al.
Human Molecular Genetics|March 7, 2018
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndromeErica Hasten, Donna M McDonald-McGinn, Terrence B Crowley, et al.
American Journal of Human Genetics|January 1, 1993
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codonN N Ahmad, D M McDonald-McGinn, E H Zackai, et al.
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