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American Journal of Medical Genetics. Part A|May 26, 2021
Expanding the clinical spectrum in trichohepatoenteric syndromeSevil Dorum, Ozlem GorukmezAmerican Journal of Medical Genetics. Part A|December 21, 2022
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndromeRyan H Peretz, Wadih M Zein, Robert B Hufnagel, et al.American Journal of Medical Genetics. Part A|December 21, 2022
Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin geneNikolaj Thure Krarup, Marie Hvidbjerg, Tomás Zaremba, et al.American Journal of Medical Genetics. Part A|December 21, 2022
Acute myeloid leukemia associated with CHARGE syndromeMarie Shuto, Naoki Hirano, Saori Oguri, et al.American Journal of Medical Genetics. Part A|June 20, 2017
Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)Maya Yardeni, Omri Weisman, Hanna Mandel, et al.American Journal of Medical Genetics. Part A|September 17, 2016
A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literatureElaine Lustosa-Mendes, Ana Paula Dos Santos, Nilma Lúcia Viguetti-Campos, et al.American Journal of Medical Genetics. Part A|September 20, 2016
Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complexEryn Dow, Ingrid WinshipAmerican Journal of Medical Genetics. Part A|September 20, 2016
Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosisKristen Wigby, Cheryl D'Epagnier, Susan Howell, et al.American Journal of Medical Genetics. Part A|June 3, 2017
Molecular and clinical delineation of 2p15p16.1 microdeletion syndromeJonathan Lévy, Aurélie Coussement, Céline Dupont, et al.American Journal of Medical Genetics. Part A|June 3, 2017
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patientsSpencer Lindsey, Carmen Brewer, Olga Stakhovskaya, et al.Pageof 928