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American Journal of Medical Genetics. Part A|December 20, 2022
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathyShuk Ching Chong, Ye Cao, Eva L W Fung, et al.
American Journal of Medical Genetics. Part A|December 20, 2022
First case of desmosterolosis diagnosed by prenatal whole exome sequencingChloe Hill, Mona Noureldein, Pallavi Karkhanis, et al.
American Journal of Medical Genetics. Part A|December 20, 2022
Autosomal dominant inheritance with sex-limited manifestation: An unusual mode of transmission in humans and animalsRudolf Happle, Kilian Eyerich
American Journal of Medical Genetics. Part A|December 13, 2022
Fatal gastrointestinal complications in Pitt-Hopkins syndromeIlan J N Koppen, Leonie A Menke, Wytske M Westra, et al.
American Journal of Medical Genetics. Part A|November 24, 2022
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from ItalyDaniela Pasquali, Annalaura Torella, Anna Grandone, et al.
American Journal of Medical Genetics. Part A|January 3, 2023
Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case reportTimothy D McElroy, Kelly A Duffy, Evan R Hathaway, et al.
American Journal of Medical Genetics. Part A|January 5, 2023
Seizures in trisomy 18: Prevalence, description, and treatmentSue L Jaspersen, Deborah A Bruns, Meghan S Candee, et al.
American Journal of Medical Genetics. Part A|January 6, 2023
Neonatal diagnosis of ACTA2-related disease: A case report and review of literatureViviana Lupo, Maria Grazia Di Gregorio, Gerarda Mastrogiorgio, et al.
American Journal of Medical Genetics. Part A|December 24, 2022
ZDHHC15 as a candidate gene for autism spectrum disorderDolors Casellas-Vidal, Irene Mademont-Soler, Joana Sánchez, et al.
American Journal of Medical Genetics. Part A|December 24, 2022
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counselingEliane Chouery, Elio Tahan, Rim Karam, et al.
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