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M Castori

Showing results (11-20 of 31) with videos related to

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The British Journal of Dermatology|October 24, 2008
Novel CTSC mutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvementM Castori, S Madonna, L Giannetti, et al.
Clinical Genetics|August 10, 2016
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphologyF Piceci, S Morlino, M Castori, et al.
Clinical Genetics|August 12, 2009
Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosisD Castiglia, M Castori, E Pisaneschi, et al.
Clinical and Experimental Dermatology|November 29, 2018
Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1R Rotunno, A Diociaiuti, E Agolini, et al.
La Clinica Terapeutica|December 21, 2020
A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case reportC Celletti, F Camerota, T Paolucci, et al.
The British Journal of Dermatology|March 23, 2010
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10C Covaciu, M Castori, N De Luca, et al.
Clinical Genetics|December 15, 2010
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrumM Castori, D Castiglia, F Brancati, et al.
Journal of Medical Genetics|February 27, 2004
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13F Brancati, E M Valente, A Sarkozy, et al.
The British Journal of Dermatology|October 6, 2007
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian populationM Castori, G Floriddia, N De Luca, et al.
Clinical and Experimental Dermatology|June 25, 2016
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2M Castori, S Morlino, M E Sana, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
The British Journal of Dermatology|October 24, 2008
Novel CTSC mutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvementM Castori, S Madonna, L Giannetti, et al.
Clinical Genetics|August 10, 2016
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphologyF Piceci, S Morlino, M Castori, et al.
Clinical Genetics|August 12, 2009
Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosisD Castiglia, M Castori, E Pisaneschi, et al.
Clinical and Experimental Dermatology|November 29, 2018
Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1R Rotunno, A Diociaiuti, E Agolini, et al.
La Clinica Terapeutica|December 21, 2020
A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case reportC Celletti, F Camerota, T Paolucci, et al.
The British Journal of Dermatology|March 23, 2010
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10C Covaciu, M Castori, N De Luca, et al.
Clinical Genetics|December 15, 2010
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrumM Castori, D Castiglia, F Brancati, et al.
Journal of Medical Genetics|February 27, 2004
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13F Brancati, E M Valente, A Sarkozy, et al.
The British Journal of Dermatology|October 6, 2007
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian populationM Castori, G Floriddia, N De Luca, et al.
Clinical and Experimental Dermatology|June 25, 2016
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2M Castori, S Morlino, M E Sana, et al.
Pageof 4