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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Ehlers-Danlos Syndrome and COL1A1[original query]
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar .
Weerakkody Ruwan A, Vandrovcova Jana, Kanonidou Christina, Mueller Michael, Gampawar Piyush, Ibrahim Yousef, Norsworthy Penny, Biggs Jennifer, Abdullah Abdulshakur, Ross David, Black Holly A, Ferguson David, Cheshire Nicholas J, Kazkaz Hanadi, Grahame Rodney, Ghali Neeti, Vandersteen Anthony, Pope F Michael, Aitman Timothy
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
American journal of medical genetics. Part A 2020 2 182 (5): 994-1007.
Ayoub Sandy, Ghali Neeti, Angwin Chloe, Baker Duncan, Baffini Stella, Brady Angela F, Giovannucci Uzielli Maria Luisa, Giunta Cecilia, Johnson Diana S, Kosho Tomoki, Neas Katherine, Pope F Michael, Rutsch Frank, Scarselli Gloria, Sobey Glenda, Vandersteen Anthony, van Dijk Fleur
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