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Ivan Ivanovski

Showing results (31-40 of 57) with videos related to

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Neurogenetics|February 24, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNPSara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, et al.
Molecular Genetics and Metabolism Reports|July 14, 2021
The fate of orally administered sialic acid: First insights from patients with <i>N</i>-acetylneuraminic acid synthase deficiency and control subjectsChristel Tran, Licia Turolla, Diana Ballhausen, et al.
Genes|October 17, 2019
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, et al.
NPJ Genomic Medicine|July 29, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disordersParanchai Boonsawat, Anselm H C Horn, Katharina Steindl, et al.
Sleep Medicine|July 10, 2019
Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic studyVeronica Di Pisa, Federica Provini, Sara Ubertiello, et al.
Genes|February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological FeaturesSimonetta Rosato, Sheila Unger, Belinda Campos-Xavier, et al.
Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Italian Journal of Pediatrics|December 18, 2014
Multiple sulfatase deficiency with neonatal manifestationLivia Garavelli, Lucia Santoro, Alexandra Iori, et al.
Genes|July 2, 2021
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous CouplesFrancesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastomaLivia Garavelli, Viviana Cordeddu, Stefania Errico, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

Sort By:
Pageof 6
Neurogenetics|February 24, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNPSara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, et al.
Molecular Genetics and Metabolism Reports|July 14, 2021
The fate of orally administered sialic acid: First insights from patients with <i>N</i>-acetylneuraminic acid synthase deficiency and control subjectsChristel Tran, Licia Turolla, Diana Ballhausen, et al.
Genes|October 17, 2019
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, et al.
NPJ Genomic Medicine|July 29, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disordersParanchai Boonsawat, Anselm H C Horn, Katharina Steindl, et al.
Sleep Medicine|July 10, 2019
Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic studyVeronica Di Pisa, Federica Provini, Sara Ubertiello, et al.
Genes|February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological FeaturesSimonetta Rosato, Sheila Unger, Belinda Campos-Xavier, et al.
Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Italian Journal of Pediatrics|December 18, 2014
Multiple sulfatase deficiency with neonatal manifestationLivia Garavelli, Lucia Santoro, Alexandra Iori, et al.
Genes|July 2, 2021
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous CouplesFrancesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastomaLivia Garavelli, Viviana Cordeddu, Stefania Errico, et al.
Pageof 6