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American Journal of Medical Genetics. Part A|February 6, 2019
Beckwith-Wiedemann syndrome in diverse populationsKelly A Duffy, Brian J Sajorda, Alice C Yu, et al.
American Journal of Medical Genetics. Part A|February 6, 2019
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrumChaya Murali, Dong Li, Katheryn Grand, et al.
American Journal of Medical Genetics. Part A|December 12, 2019
Marfan syndrome: Evolving organ manifestations-A 10-year follow-up studyThy Thy Vanem, Tordis Böker, Gunhild F Sandvik, et al.
American Journal of Medical Genetics. Part A|December 12, 2019
The sixth international RASopathies symposium: Precision medicine-From promise to practiceKaren W Gripp, Lisa Schill, Lisa Schoyer, et al.
American Journal of Medical Genetics. Part A|February 18, 2020
Cantu syndrome: A longitudinal review of vascular findings in three individualsAshley Parrott, Rachel Lombardo, Nicole Brown, et al.
American Journal of Medical Genetics. Part A|February 25, 2020
Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reportsKhadidja Chougui, Sofia Addab, Telma Palomo, et al.
American Journal of Medical Genetics. Part A|February 6, 2020
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testingAlissa M D'Gama, William J Brucker, Tian Zhang, et al.
American Journal of Medical Genetics. Part A|January 22, 2020
Tatton-Brown-Rahman syndrome: Six individuals with novel featuresTugce B Balci, Alana Strong, Jennifer M Kalish, et al.
American Journal of Medical Genetics. Part A|January 21, 2020
A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiencyHasan Bas, Oguz Cilingir, Neslihan Tekin, et al.
American Journal of Medical Genetics. Part A|January 24, 2020
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertensionAlona Birjiniuk, Kevin E Glinton, Natalie Villafranco, et al.
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