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Human Genetics|August 18, 2009
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulatorsGaia Gestri, Robert J Osborne, Alexander W Wyatt, et al.
American Journal of Medical Genetics. Part A|February 14, 2013
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn diseaseHelga V Toriello, Miriam Erick, Jean-Luc Alessandri, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 3, 2017
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiencesOliver W Quarrell, Angus J Clarke, Cecilia Compton, et al.
American Journal of Medical Genetics. Part A|July 17, 2009
Nicolaides-Baraitser syndrome: Delineation of the phenotypeSérgio B Sousa, Omar A Abdul-Rahman, Armand Bottani, et al.
Neurology|December 7, 2014
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosisMiriam J Smith, Bertand Isidor, Christian Beetz, et al.
American Journal of Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeVittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.
American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individualsAlison Foster, Anna Zachariou, Chey Loveday, et al.
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