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Livia Garavelli

Showing results (71-80 of 156) with videos related to

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American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
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.
Neurobiology of Disease|December 1, 2025
Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitorsIlaria Musante, Giulia Gorrieri, Serena Tamburro, 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.
European Journal of Medical Genetics|December 28, 2014
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmiaLucia Mauri, Alessandra Franzoni, Manuela Scarcello, et al.
Journal of Clinical Medicine|January 10, 2026
Feeding-Triggered Seizures in a Newborn with <i>AP1S1</i>-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare DiseaseAnna Cavalli, Francesca Peluso, Daniele Frattini, et al.
Cytogenetic and Genome Research|December 10, 2015
Cryptic 13q34 and 4q35.2 Deletions in an Italian FamilyFederica Riccardi, Gianna F Rivolta, Vera Uliana, 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.
Clinical Genetics|January 7, 2026
White-Sutton Syndrome: Insight of an Italian Cohort of 19 SubjectsAnna Facchini, Maria Pina Concas, Stefania Zampieri, et al.
Genetic Testing and Molecular Biomarkers|April 18, 2009
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing lossPaola Primignani, Luca Trotta, Pierangela Castorina, et al.
Pageof 16

Showing results (71-80 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
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.
Neurobiology of Disease|December 1, 2025
Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitorsIlaria Musante, Giulia Gorrieri, Serena Tamburro, 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.
European Journal of Medical Genetics|December 28, 2014
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmiaLucia Mauri, Alessandra Franzoni, Manuela Scarcello, et al.
Journal of Clinical Medicine|January 10, 2026
Feeding-Triggered Seizures in a Newborn with <i>AP1S1</i>-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare DiseaseAnna Cavalli, Francesca Peluso, Daniele Frattini, et al.
Cytogenetic and Genome Research|December 10, 2015
Cryptic 13q34 and 4q35.2 Deletions in an Italian FamilyFederica Riccardi, Gianna F Rivolta, Vera Uliana, 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.
Clinical Genetics|January 7, 2026
White-Sutton Syndrome: Insight of an Italian Cohort of 19 SubjectsAnna Facchini, Maria Pina Concas, Stefania Zampieri, et al.
Genetic Testing and Molecular Biomarkers|April 18, 2009
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing lossPaola Primignani, Luca Trotta, Pierangela Castorina, et al.
Pageof 16