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Ludovica Volpi

Showing results (1-10 of 5) with videos related to

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Orphanet Journal of Rare Diseases|February 2, 2010
Rothmund-Thomson syndromeLidia Larizza, Gaia Roversi, Ludovica Volpi
Mutation Research|October 16, 2002
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndromePauline Balraj, Pat Concannon, Rahman Jamal, et al.
Orphanet Journal of Rare Diseases|October 9, 2016
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutationsElisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, et al.
American Journal of Human Genetics|December 17, 2009
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia geneLudovica Volpi, Gaia Roversi, Elisa Adele Colombo, et al.
Orphanet Journal of Rare Diseases|January 25, 2012
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutationsElisa A Colombo, J Fernando Bazan, Gloria Negri, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
Orphanet Journal of Rare Diseases|February 2, 2010
Rothmund-Thomson syndromeLidia Larizza, Gaia Roversi, Ludovica Volpi
Mutation Research|October 16, 2002
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndromePauline Balraj, Pat Concannon, Rahman Jamal, et al.
Orphanet Journal of Rare Diseases|October 9, 2016
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutationsElisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, et al.
American Journal of Human Genetics|December 17, 2009
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia geneLudovica Volpi, Gaia Roversi, Elisa Adele Colombo, et al.
Orphanet Journal of Rare Diseases|January 25, 2012
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutationsElisa A Colombo, J Fernando Bazan, Gloria Negri, et al.
Pageof 1