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American Journal of Medical Genetics. Part A|August 12, 2016
Update on the Toriello-Carey syndromeHelga V Toriello, Chelsey Colley, Michael BamshadAmerican Journal of Medical Genetics. Part A|August 12, 2016
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutationToshiki Takenouchi, Hiroshi Yoshihashi, Yuri Sakaguchi, et al.American Journal of Medical Genetics. Part A|February 12, 2025
Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's HospitalVictoria Dortenzio, Lidija Barbaric, Elizabeth Rosenfeld, et al.American Journal of Medical Genetics. Part A|February 10, 2025
Burosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2-Year Follow-UpMariana Del Pino, Gisela Viterbo, María Agustina Valentini, et al.American Journal of Medical Genetics. Part A|January 31, 2025
A New Unc45a 5'utr Variant In Patients With Aagenaes SyndromeTurkan Turkut Tan, Yusuf Can Dogan, Zehra Burcu Yilmaz, et al.American Journal of Medical Genetics. Part A|January 31, 2025
The c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First-Line Genetic Test for Aicardi-Goutières Syndrome: A Case Series of Four Moroccan FamiliesMouna Ouhenach, Amllal Nada, Jaber Lyahyai, et al.American Journal of Medical Genetics. Part A|January 31, 2025
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature ReviewAngela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, et al.American Journal of Medical Genetics. Part A|January 20, 2025
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003-2022Jonathan M Artal, Lindsey Randall, Sabina Rubeck, et al.American Journal of Medical Genetics. Part A|January 11, 2025
Inpatient Hospitalizations for COVID-19 Among Patients With Prader-Willi Syndrome: A National Inpatient Sample AnalysisJames Luccarelli, Theresa V Strong, Emily B Rubin, et al.American Journal of Medical Genetics. Part A|January 20, 2025
Adult-Onset Hypomagnesemia With Secondary Hypocalcemia Caused by a Novel Variant in TRPM6 Gene: A Case ReportYan Chen, Jian Liang, Yuhua Hu, et al.Pageof 928