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Maria Iascone

Showing results (21-30 of 178) with videos related to

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Genes|June 27, 2024
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the <i>CREBBP</i> GeneGiulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, et al.
Genes|September 28, 2024
A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature ReviewMaria Teresa Bonati, Cristina Baldoli, Jacopo Taurino, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|May 1, 2024
Early occurrence of photic-reflex myoclonus in CDKL5-deficiency disorderDavide Caputo, Silvana Franceschetti, Laura Canafoglia, et al.
The Journal of Pediatrics|June 5, 2019
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation SequencingEmanuele Nicastro, Angelo Di Giorgio, Daniela Marchetti, et al.
Pediatric Reports|October 31, 2017
Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the <i>HSD3B7</i> geneGrazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, et al.
American Journal of Medical Genetics. Part A|June 7, 2022
A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literatureRoberto Franceschi, Maria Iascone, Silvia Maitz, et al.
Prenatal Diagnosis|August 6, 2025
Novel Biallelic Variants in CPOX Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria?Chiara Patelli, Gabriele Tonni, Maria Iascone, et al.
The Annals of Thoracic Surgery|January 17, 2004
Left main stem patch plasty and aortic root homograft in Takayasu's diseaseMarco L S Matteucci, Maria Iascone, Amando Gamba, et al.
American Journal of Medical Genetics. Part A|May 1, 2014
Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndromeMaria Elena Sana, Andrea Spitaleri, Dimitrios Spiliotopoulos, et al.
American Journal of Medical Genetics. Part A|February 25, 2015
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasiaMarco Castori, Giulia Pascolini, Valentina Parisi, et al.
Pageof 18

Showing results (21-30 of 178) with videos related to

Sort By:
Pageof 18
Genes|June 27, 2024
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the <i>CREBBP</i> GeneGiulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, et al.
Genes|September 28, 2024
A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature ReviewMaria Teresa Bonati, Cristina Baldoli, Jacopo Taurino, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|May 1, 2024
Early occurrence of photic-reflex myoclonus in CDKL5-deficiency disorderDavide Caputo, Silvana Franceschetti, Laura Canafoglia, et al.
The Journal of Pediatrics|June 5, 2019
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation SequencingEmanuele Nicastro, Angelo Di Giorgio, Daniela Marchetti, et al.
Pediatric Reports|October 31, 2017
Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the <i>HSD3B7</i> geneGrazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, et al.
American Journal of Medical Genetics. Part A|June 7, 2022
A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literatureRoberto Franceschi, Maria Iascone, Silvia Maitz, et al.
Prenatal Diagnosis|August 6, 2025
Novel Biallelic Variants in CPOX Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria?Chiara Patelli, Gabriele Tonni, Maria Iascone, et al.
The Annals of Thoracic Surgery|January 17, 2004
Left main stem patch plasty and aortic root homograft in Takayasu's diseaseMarco L S Matteucci, Maria Iascone, Amando Gamba, et al.
American Journal of Medical Genetics. Part A|May 1, 2014
Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndromeMaria Elena Sana, Andrea Spitaleri, Dimitrios Spiliotopoulos, et al.
American Journal of Medical Genetics. Part A|February 25, 2015
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasiaMarco Castori, Giulia Pascolini, Valentina Parisi, et al.
Pageof 18