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Ilaria Longo

Showing results (1-10 of 39) with videos related to

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Journal of Nephrology|May 28, 2003
Type-IV collagen related diseasesChiara Pescucci, Ilaria Longo, Mirella Bruttini, et al.
Studies in Health Technology and Informatics|May 23, 2026
Evaluating Caregiver Satisfaction with the Use of a Digital Self-Management Device and Its Support Programme for Paediatric Growth Hormone Therapy in Italy: A Research ProtocolIlaria Longo, Caterina Rizzi, Andrea Paolillo, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 24, 2020
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterizationChiara Romano, Silvia Ferranti, Maria Antonietta Mencarelli, et al.
Journal of Molecular Medicine (Berlin, Germany)|May 17, 2003
Rett syndrome: the complex nature of a monogenic diseaseAlessandra Renieri, Ilaria Meloni, Ilaria Longo, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 28, 2006
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucomaFrancesca Ariani, Ilaria Longo, Paolo Frezzotti, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 23, 2003
Study of MECP2 gene in Rett syndrome variants and autistic girlsMichele Zappella, Ilaria Meloni, Ilaria Longo, et al.
Journal of Andrology|April 21, 2012
A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngiomaMario Rotondi, Chiara Fallerini, Barbara Pirali, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 16, 2003
Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucomaMirella Bruttini, Ilaria Longo, Paolo Frezzotti, et al.
Human Mutation|July 9, 2004
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplicationFrancesca Ariani, Francesca Mari, Chiara Pescucci, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 26, 2007
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndromeVanna Micheli, Sylvia Sestini, Veronica Parri, et al.
Pageof 4

Showing results (1-10 of 39) with videos related to

Sort By:
Pageof 4
Journal of Nephrology|May 28, 2003
Type-IV collagen related diseasesChiara Pescucci, Ilaria Longo, Mirella Bruttini, et al.
Studies in Health Technology and Informatics|May 23, 2026
Evaluating Caregiver Satisfaction with the Use of a Digital Self-Management Device and Its Support Programme for Paediatric Growth Hormone Therapy in Italy: A Research ProtocolIlaria Longo, Caterina Rizzi, Andrea Paolillo, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 24, 2020
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterizationChiara Romano, Silvia Ferranti, Maria Antonietta Mencarelli, et al.
Journal of Molecular Medicine (Berlin, Germany)|May 17, 2003
Rett syndrome: the complex nature of a monogenic diseaseAlessandra Renieri, Ilaria Meloni, Ilaria Longo, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 28, 2006
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucomaFrancesca Ariani, Ilaria Longo, Paolo Frezzotti, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 23, 2003
Study of MECP2 gene in Rett syndrome variants and autistic girlsMichele Zappella, Ilaria Meloni, Ilaria Longo, et al.
Journal of Andrology|April 21, 2012
A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngiomaMario Rotondi, Chiara Fallerini, Barbara Pirali, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 16, 2003
Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucomaMirella Bruttini, Ilaria Longo, Paolo Frezzotti, et al.
Human Mutation|July 9, 2004
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplicationFrancesca Ariani, Francesca Mari, Chiara Pescucci, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 26, 2007
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndromeVanna Micheli, Sylvia Sestini, Veronica Parri, et al.
Pageof 4