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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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Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum

Scala, Marcello et al.

Pediatric blood & cancer. Volume 66:Issue 9 (2019); pp n/a-n/a -- John Wiley

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Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum

Scala, Marcello et al.

Pediatric blood & cancer. Volume 66:Number 9 (2019, September); pp n/a-n/a -- John Wiley

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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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Clock-genes and mitochondrial respiratory activity: Evidence of a reciprocal interplay

Scrima, Rosella et al.

Biochimica et biophysica acta. Volume 1857:Issue 8 (2016); pp 1344-1351 -- Elsevier Science

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A novel MED12 mutation: Evidence for a fourth phenotype

Prontera, Paolo et al.

American journal of medical genetics. Part A. Volume 170:Issue 9 (2016); pp 2377-2382 -- Wiley-Liss

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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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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 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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A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

Nardella, Grazia et al.

Human mutation. Volume 39:Issue 12 (2018); pp 1885-1900 -- Wiley Blackwell

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