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Francesca Cristofoli

Showing results (1-10 of 19) with videos related to

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Mutation Research|February 2, 2016
Polymerase specific error rates and profiles identified by single molecule sequencingMatthew S Hestand, Jeroen Van Houdt, Francesca Cristofoli, et al.
Human Mutation|April 26, 2018
Novel CASK mutations in cases with syndromic microcephalyFrancesca Cristofoli, Koen Devriendt, Erica E Davis, et al.
Molecular Syndromology|December 13, 2017
Novel <i>STIL</i> Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar LengtheningFrancesca Cristofoli, Bart De Keersmaecker, Luc De Catte, et al.
Investigative Ophthalmology & Visual Science|October 26, 2017
Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in NeonatesChen Liang, Alicia Kerr, Yangfengzhong Qiu, et al.
Archives of Dermatological Research|September 9, 2024
Novel loss-of-function variants in filaggrin exon 3 in patients with severe atopic dermatitisFrancesco Bellinato, Paolo Gisondi, Maria Chiara Medori, et al.
American Journal of Medical Genetics. Part A|June 17, 2015
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndromeSimon Poelmans, Tatsuro Kawamoto, Francesca Cristofoli, et al.
Minerva Endocrinology|May 14, 2021
A simultaneous next-generation sequencing approach to the diagnosis of couple infertilityVincenza Precone, Angelantonio Notarangelo, Giuseppe Marceddu, et al.
Ophthalmic Research|November 15, 2021
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic VariantsLeonardo Colombo, Paolo Enrico Maltese, Dario Romano, et al.
Acta Bio-Medica : Atenei Parmensis|November 10, 2020
Bacteriophages presence in nature and their role in the natural selection of bacterial populationsZakira Naureen, Astrit Dautaj, Kyrylo Anpilogov, et al.
Genes|August 26, 2023
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS RecommendationsFrancesca Cristofoli, Muharrem Daja, Paolo Enrico Maltese, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Mutation Research|February 2, 2016
Polymerase specific error rates and profiles identified by single molecule sequencingMatthew S Hestand, Jeroen Van Houdt, Francesca Cristofoli, et al.
Human Mutation|April 26, 2018
Novel CASK mutations in cases with syndromic microcephalyFrancesca Cristofoli, Koen Devriendt, Erica E Davis, et al.
Molecular Syndromology|December 13, 2017
Novel <i>STIL</i> Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar LengtheningFrancesca Cristofoli, Bart De Keersmaecker, Luc De Catte, et al.
Investigative Ophthalmology & Visual Science|October 26, 2017
Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in NeonatesChen Liang, Alicia Kerr, Yangfengzhong Qiu, et al.
Archives of Dermatological Research|September 9, 2024
Novel loss-of-function variants in filaggrin exon 3 in patients with severe atopic dermatitisFrancesco Bellinato, Paolo Gisondi, Maria Chiara Medori, et al.
American Journal of Medical Genetics. Part A|June 17, 2015
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndromeSimon Poelmans, Tatsuro Kawamoto, Francesca Cristofoli, et al.
Minerva Endocrinology|May 14, 2021
A simultaneous next-generation sequencing approach to the diagnosis of couple infertilityVincenza Precone, Angelantonio Notarangelo, Giuseppe Marceddu, et al.
Ophthalmic Research|November 15, 2021
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic VariantsLeonardo Colombo, Paolo Enrico Maltese, Dario Romano, et al.
Acta Bio-Medica : Atenei Parmensis|November 10, 2020
Bacteriophages presence in nature and their role in the natural selection of bacterial populationsZakira Naureen, Astrit Dautaj, Kyrylo Anpilogov, et al.
Genes|August 26, 2023
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS RecommendationsFrancesca Cristofoli, Muharrem Daja, Paolo Enrico Maltese, et al.
Pageof 2