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Maria Cristina Digilio

Showing results (91-100 of 232) with videos related to

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Journal of Clinical Medicine|August 26, 2022
Obsessive Compulsive "Paper Handling": A Potential Distinctive Behavior in Children and Adolescents with KBG SyndromeFrancesco Demaria, Paolo Alfieri, Maria Cristina Digilio, et al.
Frontiers in Genetics|February 21, 2024
Case report: A new <i>de novo</i> 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature reviewChiara Minotti, Ludovico Graziani, Ester Sallicandro, et al.
Italian Journal of Pediatrics|September 18, 2024
Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literatureFlaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, et al.
BMC Genomics|July 31, 2013
Transcriptomic and proteomic analysis of a compatible tomato-aphid interaction reveals a predominant salicylic acid-dependent plant responseValentina Coppola, Mariangela Coppola, Mariapina Rocco, et al.
European Journal of Human Genetics : EJHG|July 25, 2022
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1Viola Alesi, Francesca Romana Lepri, Maria Lisa Dentici, et al.
Orphanet Journal of Rare Diseases|April 21, 2011
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndromeMaria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, et al.
Cardiology in the Young|October 10, 2008
A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromesFabiana Cerrato, Giuseppe Pacileo, Giuseppe Limongelli, et al.
Children (Basel, Switzerland)|June 24, 2022
22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart DefectsCarolina Putotto, Flaminia Pugnaloni, Marta Unolt, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old womanGiuseppe Limongelli, Giuseppe Pacileo, Daniela Melis, et al.
Hormone Research in Paediatrics|July 4, 2024
Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre StudyMarco Cappa, Francesco d'Aniello, Maria Cristina Digilio, et al.
Pageof 24

Showing results (91-100 of 232) with videos related to

Sort By:
Pageof 24
Journal of Clinical Medicine|August 26, 2022
Obsessive Compulsive "Paper Handling": A Potential Distinctive Behavior in Children and Adolescents with KBG SyndromeFrancesco Demaria, Paolo Alfieri, Maria Cristina Digilio, et al.
Frontiers in Genetics|February 21, 2024
Case report: A new <i>de novo</i> 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature reviewChiara Minotti, Ludovico Graziani, Ester Sallicandro, et al.
Italian Journal of Pediatrics|September 18, 2024
Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literatureFlaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, et al.
BMC Genomics|July 31, 2013
Transcriptomic and proteomic analysis of a compatible tomato-aphid interaction reveals a predominant salicylic acid-dependent plant responseValentina Coppola, Mariangela Coppola, Mariapina Rocco, et al.
European Journal of Human Genetics : EJHG|July 25, 2022
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1Viola Alesi, Francesca Romana Lepri, Maria Lisa Dentici, et al.
Orphanet Journal of Rare Diseases|April 21, 2011
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndromeMaria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, et al.
Cardiology in the Young|October 10, 2008
A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromesFabiana Cerrato, Giuseppe Pacileo, Giuseppe Limongelli, et al.
Children (Basel, Switzerland)|June 24, 2022
22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart DefectsCarolina Putotto, Flaminia Pugnaloni, Marta Unolt, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old womanGiuseppe Limongelli, Giuseppe Pacileo, Daniela Melis, et al.
Hormone Research in Paediatrics|July 4, 2024
Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre StudyMarco Cappa, Francesco d'Aniello, Maria Cristina Digilio, et al.
Pageof 24