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Rao, Nandana D, Kaganovsky, Jailanie, Malouf, Emily A, Coe, Sandy, Huey, Jennifer, Tsinajinne, Darwin, Hassan, Sajida, King, Kristine M, Fullerton, Stephanie M, Chen, Annie T, Shirts, Brian H
Published in Genome medicine (18.04.2023)
Published in Genome medicine (18.04.2023)
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Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men
Deng, Xinxian, Fang, He, Pathak, Asha, Zou, Angela M, Neufeld-Kaiser, Whitney, Malouf, Emily A, Failor, Richard A, Hisama, Fuki M, Liu, Yajuan J
Published in Frontiers in genetics (22.09.2020)
Published in Frontiers in genetics (22.09.2020)
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Extended Family Outreach in Hereditary Cancer Using Web-Based Genealogy, Direct-to-Consumer Ancestry Genetics, and Social Media: Mixed Methods Process Evaluation of the ConnectMyVariant Intervention
Chen, Annie T, Huey, Jennifer, Coe, Sandra, Kaganovsky, Jailanie, Malouf, Emily A, Evans, Heather D, Daker, Jill, Harper, Elizabeth, Fordiani, Olivia, Lowe, Emma E, Oldroyd, Caileigh McGraw, Price, Ashlyn, Roth, Kristlynn, Stoddard, Julie, Crandell, Jill N, Shirts, Brian H
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Published in JMIR cancer (20.04.2023)
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CNTNAP1 mutations in an adult with Charcot Marie Tooth disease
Freed, Amanda S., Weiss, Michael D., Malouf, Emily A., Hisama, Fuki M.
Published in Muscle & nerve (01.11.2019)
Published in Muscle & nerve (01.11.2019)
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Journal Article
Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures
Byers, Heather M., Bennett, Robin L., Malouf, Emily A., Weiss, Michael D., Feng, Jie, Scott, C. Ronald, Jayadev, Suman
Published in JIMD Reports, Volume 30 (01.01.2016)
Published in JIMD Reports, Volume 30 (01.01.2016)
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Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures
Byers, Heather M., Bennett, Robin L., Malouf, Emily A., Weiss, Michael D., Feng, Jie, Scott, C. Ronald, Jayadev, Suman
Published in JIMD Reports, Volume 30 (2016)
Published in JIMD Reports, Volume 30 (2016)
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