C De Bernardo - JoVE Visualize

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American Journal of Medical Genetics. Part A|March 26, 2003

Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotypeR Rinaldi, C De Bernardo, M Assumma, et al.

Genetic Counseling (Geneva, Switzerland)|January 23, 1999

Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissectionP Grammatico, M Roccella, C De Bernardo, et al.

American Journal of Ophthalmology|September 27, 2000

Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 geneM A Blasi, R Rinaldi, A Renieri, et al.

Melanoma Research|October 12, 2001

CDKN2A novel mutation in a patient from a melanoma-prone familyP Grammatico, F Binni, L Eibenschutz, et al.

Journal of Pediatric Surgery|August 2, 2003

Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadiaG Marrocco, M Poscente, S Majore, et al.

Haematologica|August 23, 2006

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overloadS Majore, F Milano, F Binni, et al.

Clinical Genetics|February 6, 2010

Novel and recurrent p14 mutations in Italian familial melanomaF Binni, I Antigoni, P De Simone, et al.

The British Journal of Dermatology|November 12, 2009

Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey diseaseS Cialfi, C Oliviero, S Ceccarelli, et al.

Human Mutation|July 20, 2001

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsM G Miano, F Testa, F Filippini, et al.

European Journal of Human Genetics : EJHG|September 14, 1999

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosaM G Miano, F Testa, M Strazzullo, et al.

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

Sort By:

Pageof 1

American Journal of Medical Genetics. Part A|March 26, 2003

Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotypeR Rinaldi, C De Bernardo, M Assumma, et al.

Genetic Counseling (Geneva, Switzerland)|January 23, 1999

Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissectionP Grammatico, M Roccella, C De Bernardo, et al.

American Journal of Ophthalmology|September 27, 2000

Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 geneM A Blasi, R Rinaldi, A Renieri, et al.

Melanoma Research|October 12, 2001

CDKN2A novel mutation in a patient from a melanoma-prone familyP Grammatico, F Binni, L Eibenschutz, et al.

Journal of Pediatric Surgery|August 2, 2003

Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadiaG Marrocco, M Poscente, S Majore, et al.

Haematologica|August 23, 2006

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overloadS Majore, F Milano, F Binni, et al.

Clinical Genetics|February 6, 2010

Novel and recurrent p14 mutations in Italian familial melanomaF Binni, I Antigoni, P De Simone, et al.

The British Journal of Dermatology|November 12, 2009

Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey diseaseS Cialfi, C Oliviero, S Ceccarelli, et al.

Human Mutation|July 20, 2001

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsM G Miano, F Testa, F Filippini, et al.

European Journal of Human Genetics : EJHG|September 14, 1999

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosaM G Miano, F Testa, M Strazzullo, et al.

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