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A Novelli

Showing results (221-230 of 240) with videos related to

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Molecular Cytogenetics|September 4, 2015
A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotypeA Primerano, E Colao, C Villella, 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.
Clinical Genetics|December 6, 2012
Syndromic non-compaction of the left ventricle: associated chromosomal anomaliesM C Digilio, L Bernardini, M G Gagliardi, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|May 22, 2024
Diagnostic accuracy of cell-free fetal DNA in maternal blood in detecting chromosomal anomalies in twin pregnancy: systematic review and meta-analysisL Della Valle, M Piergianni, A Khalil, et al.
European Review for Medical and Pharmacological Sciences|September 4, 2025
Effective and safe use of alirocumab in spinal and bulbar muscular atrophy with high cardiovascular risk: a case reportS Muscoli, L Colarocchio, D Koukorini, et al.
Journal of Medical Genetics|December 7, 2007
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplificationA De Luca, I Bottillo, M C Dasdia, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGHN Bukvic, V Delli Carri, M L Di Cosola, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|December 4, 2020
Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-upS Rossi, D Castiglia, E Pisaneschi, et al.
Neuropediatrics|January 4, 2005
Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter studyE Falcidia, E Parano, A Grillo, et al.
Antimicrobial Agents and Chemotherapy|August 22, 2000
Interactions between triazoles and amphotericin B against Cryptococcus neoformansF Barchiesi, A M Schimizzi, F Caselli, et al.
Pageof 24

Showing results (221-230 of 240) with videos related to

Sort By:
Pageof 24
Molecular Cytogenetics|September 4, 2015
A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotypeA Primerano, E Colao, C Villella, 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.
Clinical Genetics|December 6, 2012
Syndromic non-compaction of the left ventricle: associated chromosomal anomaliesM C Digilio, L Bernardini, M G Gagliardi, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|May 22, 2024
Diagnostic accuracy of cell-free fetal DNA in maternal blood in detecting chromosomal anomalies in twin pregnancy: systematic review and meta-analysisL Della Valle, M Piergianni, A Khalil, et al.
European Review for Medical and Pharmacological Sciences|September 4, 2025
Effective and safe use of alirocumab in spinal and bulbar muscular atrophy with high cardiovascular risk: a case reportS Muscoli, L Colarocchio, D Koukorini, et al.
Journal of Medical Genetics|December 7, 2007
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplificationA De Luca, I Bottillo, M C Dasdia, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGHN Bukvic, V Delli Carri, M L Di Cosola, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|December 4, 2020
Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-upS Rossi, D Castiglia, E Pisaneschi, et al.
Neuropediatrics|January 4, 2005
Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter studyE Falcidia, E Parano, A Grillo, et al.
Antimicrobial Agents and Chemotherapy|August 22, 2000
Interactions between triazoles and amphotericin B against Cryptococcus neoformansF Barchiesi, A M Schimizzi, F Caselli, et al.
Pageof 24