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M C Digilio

Showing results (111-120 of 130) with videos related to

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Molecular and Cellular Probes|September 25, 2002
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndromeC Patrono, C Dionisi-Vici, A Giannotti, et al.
Journal of Insect Physiology|November 20, 2003
Absorption of sugars and amino acids by the epidermis of Aphidius ervi larvaeB Giordana, A Milani, A Grimaldi, et al.
Clinical and Experimental Immunology|July 11, 2000
T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndromeM Pierdominici, M Marziali, A Giovannetti, et al.
Journal of Medical Genetics|September 10, 2003
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromesA Sarkozy, E Conti, D Seripa, et al.
Molecular Syndromology|December 23, 2011
RASopathies: Clinical Diagnosis in the First Year of LifeM C Digilio, F Lepri, A Baban, et al.
Journal of Medical Genetics|July 5, 2005
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletionsC Howald, G Merla, M C Digilio, et al.
Clinical Genetics|September 14, 2017
Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and reviewE Agolini, M L Dentici, E Bellacchio, et al.
Clinical and Experimental Immunology|April 18, 2003
Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)M Pierdominici, F Mazzetta, E Caprini, et al.
Clinical Genetics|September 3, 2010
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleAlessandro De Luca, A Sarkozy, R Ferese, et al.
European Journal of Medical Genetics|November 11, 2021
Congenital heart defects in the recurrent 2q13 deletion syndromeM C Digilio, M L Dentici, S Loddo, et al.
Pageof 13

Showing results (111-120 of 130) with videos related to

Sort By:
Pageof 13
Molecular and Cellular Probes|September 25, 2002
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndromeC Patrono, C Dionisi-Vici, A Giannotti, et al.
Journal of Insect Physiology|November 20, 2003
Absorption of sugars and amino acids by the epidermis of Aphidius ervi larvaeB Giordana, A Milani, A Grimaldi, et al.
Clinical and Experimental Immunology|July 11, 2000
T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndromeM Pierdominici, M Marziali, A Giovannetti, et al.
Journal of Medical Genetics|September 10, 2003
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromesA Sarkozy, E Conti, D Seripa, et al.
Molecular Syndromology|December 23, 2011
RASopathies: Clinical Diagnosis in the First Year of LifeM C Digilio, F Lepri, A Baban, et al.
Journal of Medical Genetics|July 5, 2005
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletionsC Howald, G Merla, M C Digilio, et al.
Clinical Genetics|September 14, 2017
Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and reviewE Agolini, M L Dentici, E Bellacchio, et al.
Clinical and Experimental Immunology|April 18, 2003
Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)M Pierdominici, F Mazzetta, E Caprini, et al.
Clinical Genetics|September 3, 2010
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleAlessandro De Luca, A Sarkozy, R Ferese, et al.
European Journal of Medical Genetics|November 11, 2021
Congenital heart defects in the recurrent 2q13 deletion syndromeM C Digilio, M L Dentici, S Loddo, et al.
Pageof 13