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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

• Authors : Chrystal, Paul W.; Lambacher, Nils J.; Doucette, Lance P.

• Source: Chrystal , P W , Lambacher , N J , Genomics England Research Consortium , Doucette , L P , Bellingham , J , Schiff , E R , Noel , N C L , Li , C , Tsiropoulou , S , Casey , G A , Zhai , Y , Nadolski ,

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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

• Authors : Kloth, Katja; Lozic, Bernarda; Tagoe, Julia

Subjects: Adolescent [MeSH]; Ankyrin-G; Mutation

• Source: http://lobid.org/resources/99370672695206441#!, 22(4):263-269.

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Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder

• Authors : Ganapathi, Mythily; Padgett, Leah R.; Yamada, Kentaro

Subjects: Article

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

• Authors : Redin, Claire; Brand, Harrison; Collins, Ryan L

Subjects: Journal Article

• Source: Redin , C , Brand , H , Collins , R L , Kammin , T , Mitchell , E , Hodge , J C , Hanscom , C , Pillalamarri , V , Seabra , C M , Abbott , M-A , Abdul-Rahman , O A , Aberg , E , Adley , R ,

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IMPACT webinars: Improving Patient Access to genetic Counselling and Testing using webinars—the Alberta experience with hypertrophic cardiomyopathy.

• Authors : Christian, Susan; Tagoe, Julia; Delday, Lenore

• Source: Journal of Community Genetics; Feb2022, Vol. 13 Issue 1, p81-89, 9p

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Highly Efficient and More General cis- and trans-Splicing Inteins through Sequential Directed Evolution*

• Authors : Appleby-Tagoe, Julia H.; Thiel, Ilka V.; Wang, Yi

Subjects: Protein Structure and Folding

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Reading Between the Lines: A Comparison of Responders and Non-responders to a Family History Questionnaire and Implications for Cancer Genetic Counselling.

• Authors : Appleby-Tagoe, Julia; Foulkes, William; Palma, Laura

• Source: Journal of Genetic Counseling; Apr2012, Vol. 21 Issue 2, p273-291, 19p

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