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A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome

Prontera, Paolo et al.

Human mutation. Volume 36:Issue 11 (2015); pp 1043-1047 -- Wiley Blackwell

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VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line

Micale, Lucia et al.

Journal of biomedicine and biotechnology. Volume 2009 (2009) -- Hindawi Pub. Corp -- [Available from] -- [PubMed Central]

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TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways

Venuto, Santina et al.

Biochimica et biophysica acta. Volume 1863:Number 2 (2019, February); pp 491-501 -- Elsevier Science

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TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease

Alfaiz, Ali Abdullah et al.

Human mutation. Volume 35:Issue 4 (2014, April); pp 447-451 -- Wiley Blackwell

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TRIM8 modulates p53 activity to dictate cell cycle arrest

Caratozzolo, Mariano Francesco et al.

Cell cycle -- Taylor & Francis, Taylor & Francis Group -- Volume: 11 Issue: 3; (pages 511-523) -- 2012

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TRIM50 regulates Beclin 1 proautophagic activity

Fusco, Carmela et al.

Biochimica et biophysica acta. Volume 1865:Number 6 (2018, June); pp 908-919 -- Elsevier Science

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Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

Micale, Lucia et al.

Human mutation. Volume 35:Issue 7 (2014, July); pp 841-850 -- Wiley Blackwell

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The socioeconomic burden of patients affected by hemophilia with inhibitors

D'Angiolella, Lucia S. et al.

European journal of haematology. VOL 101; NUMBER 4, ; 2018, 435-456 -- Wiley-Blackwell

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The socioeconomic burden of patients affected by hemophilia with inhibitors

D'Angiolella, Lucia S. et al.

European journal of haematology. Volume 101:Number 4 (2018); pp 435-456 -- Wiley

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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Klionsky, Daniel J et al.

Autophagy. Volume 12:Issue 1 (2016, January); pp 1-222 -- Taylor & Francis

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