Advocacy groups as research organizations: the PXE International example
Terry, Sharon F, Terry, Patrick F, Rauen, Katherine A, Uitto, Jouni, Bercovitch, Lionel G
Published in Nature reviews. Genetics (01.02.2007)
Published in Nature reviews. Genetics (01.02.2007)
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Journal Article
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
Vanakker, Olivier M, Leroy, Bart P, Coucke, Paul, Bercovitch, Lionel G, Uitto, Jouni, Viljoen, Dennis, Terry, Sharon F, Van Acker, Petra, Matthys, Dirk, Loeys, Bart, De Paepe, Anne
Published in Human mutation (01.01.2008)
Published in Human mutation (01.01.2008)
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Journal Article
The scope of health insurance coverage of vitiligo treatments in the United States: Implications for health care outcomes and disparities in children of color
Blundell, Andrew, Sachar, Moniyka, Gabel, Colleen K., Bercovitch, Lionel G.
Published in Pediatric dermatology (01.11.2021)
Published in Pediatric dermatology (01.11.2021)
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Journal Article
Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas
Atzmony, Lihi, Ugwu, Nelson, Bercovitch, Lionel G., Robinson‐Bostom, Leslie, Ko, Christine J., Myung, Peggy, Choate, Keith A.
Published in American journal of medical genetics. Part A (01.12.2022)
Published in American journal of medical genetics. Part A (01.12.2022)
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Journal Article
Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
Pfendner, Ellen G, Vanakker, Olivier M, Terry, Sharon F, Vourthis, Sophia, McAndrew, Patricia E, McClain, Monica R, Fratta, Sarah, Marais, Anna-Susan, Hariri, Susan, Coucke, Paul J, Ramsay, Michele, Viljoen, Denis, Terry, Patrick F, De Paepe, Anne, Uitto, Jouni, Bercovitch, Lionel G
Published in Journal of medical genetics (01.10.2007)
Published in Journal of medical genetics (01.10.2007)
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Journal Article
PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS
Uitto, Jouni, Jiang, Qiujie, Váradi, András, Bercovitch, Lionel G, Terry, Sharon F
Published in Expert opinion on orphan drugs (01.06.2014)
Published in Expert opinion on orphan drugs (01.06.2014)
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Journal Article
Development of a Rapid, Reliable Genetic Test for Pseudoxanthoma Elasticum
Shi, Yanggu, Terry, Sharon F, Terry, Patrick F, Bercovitch, Lionel G, Gerard, Gary F
Published in The Journal of molecular diagnostics : JMD (01.02.2007)
Published in The Journal of molecular diagnostics : JMD (01.02.2007)
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Journal Article
Testicular microlithiasis in association with pseudoxanthoma elasticum
Bercovitch, Robert S, Januario, Jennifer A, Terry, Sharon F, Boekelheide, Kim, Podis, Alan D, Dupuy, Damian E, Bercovitch, Lionel G
Published in Radiology (01.11.2005)
Published in Radiology (01.11.2005)
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Journal Article
Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p. L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas
Atzmony, Lihi, Ugwu, Nelson, Bercovitch, Lionel G., Robinson‐Bostom, Leslie, Ko, Christine J., Myung, Peggy, Choate, Keith A.
Published in American journal of medical genetics. Part A (01.12.2022)
Published in American journal of medical genetics. Part A (01.12.2022)
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Journal Article
A hemorrhagic-crusted papule with a central crater on the heel. Tungiasis
Wilmer, Erin N, Telang, Gladys H, Bercovitch, Lionel G
Published in JAMA dermatology (Chicago, Ill.) (01.10.2013)
Published in JAMA dermatology (Chicago, Ill.) (01.10.2013)
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Journal Article
The role of patient advocacy organizations in genetic research
Terry, Sharon F., Terry, Patrick F., Bercovitch, Lionel G., Uitto, Jouni
Published in Matrix biology (01.12.2008)
Published in Matrix biology (01.12.2008)
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Journal Article
Segmental basaloid follicular hamartomas derive from a post-zygotic SMO p.L412F pathogenic variant and express hair follicle development-related proteins in a pattern that distinguish them from basal cell carcinomas
Atzmony, Lihi, Ugwu, Nelson, Bercovitch, Lionel G, Robinson-Bostom, Leslie, Ko, Christine J, Myung, Peggy, Choate, Keith A
Published in American journal of medical genetics. Part A (01.12.2022)
Published in American journal of medical genetics. Part A (01.12.2022)
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