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American Journal of Medical Genetics. Part A|December 21, 2018
SOFT syndrome in a patient from ChileKen Saida, Sebastian Silva, Benjamin Solar, et al.American Journal of Medical Genetics. Part A|December 21, 2018
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutationEmmanuel de Billy, Luisa Strocchio, Antonella Cacchione, et al.American Journal of Medical Genetics. Part A|December 21, 2018
Periconceptional folic acid supplementation in Southern Brazil: Why are not we doing it right?Ernani B da Rosa, Daniélle B Silveira, Jamile D Correia, et al.American Journal of Medical Genetics. Part A|December 18, 2018
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variantThabo Michael Yates, Oon-Hui Ng, Amaka C Offiah, et al.American Journal of Medical Genetics. Part A|February 13, 2018
A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomaliesAndrea Accogli, Fadi F Hamdan, Chantal Poulin, et al.American Journal of Medical Genetics. Part A|February 14, 2018
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesisNuriye Dinckan, Renqian Du, Zeynep C Akdemir, et al.American Journal of Medical Genetics. Part A|February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndromeYuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.American Journal of Medical Genetics. Part A|January 13, 2019
Vestibular dysfunction is a manifestation of 22q11.2 deletion syndromeAnnelore Willaert, Charlotte Van Eynde, Nicolas Verhaert, et al.American Journal of Medical Genetics. Part A|January 15, 2019
The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapyCarole Samango-Sprouse, Patricia Lasutschinkow, Sherida Powell, et al.American Journal of Medical Genetics. Part A|March 26, 2018
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutationMagdalena Danyel, Fanny Kortüm, Katarina Dathe, et al.Pageof 929