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MATERA I

Last name: MATERA I

2014 (v1)

Publication

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Expression variability and function of the RET gene in adult peripheral blood mononuclear cells

RUSMINI, MARTA RAVAZZOLO, ROBERTO Griseri P

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Uploaded on: April 14, 2023
2006 (v1)

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Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome

Bachetti T Robbiano A Parodi S

Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy characterized by absence of automatic control of respiration; decreased sensibility to hypoxia and hypercapnia, mainly during sleep; and autosomal dominant inheritance due to heterozygous polyalanine expansions and frameshift mutations in the PHOX2B gene. Because the...

Uploaded on: March 31, 2023
2013 (v1)

Publication

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Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease

Matera I Musso M Griseri P

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Uploaded on: April 14, 2023