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Mirella Bruttini

Showing results (1-10 of 42) 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.
European Journal of Medical Genetics|November 21, 2020
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotypeAurora Currò, Gabriella Doddato, Mirella Bruttini, et al.
Ophthalmic Genetics|September 23, 2021
Novel retinal finding in a patient with 4q12 deletionMario Fruschelli, Nicola Lorusso, Theodora Hadjistilianou, 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.
Frontiers in Medicine|December 17, 2020
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 CasesAntonio Mastrangelo, Marisa Giani, Elena Groppali, et al.
Transplantation|January 3, 2020
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney TransplantationAnna Maria Pinto, Sergio Daga, Chiara Fallerini, et al.
Neuromuscular Disorders : NMD|October 24, 2015
Dropped-head in recessive oculopharyngeal muscular dystrophyMatteo Garibaldi, Elena Maria Pennisi, Mirella Bruttini, et al.
BMC Genomics|March 13, 2024
De novo assembly and annotation of Popillia japonica's genome with initial clues to its potential as an invasive pestClaudio Cucini, Sara Boschi, Rebecca Funari, 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 5

Showing results (1-10 of 42) with videos related to

Sort By:
Pageof 5
Journal of Nephrology|May 28, 2003
Type-IV collagen related diseasesChiara Pescucci, Ilaria Longo, Mirella Bruttini, et al.
European Journal of Medical Genetics|November 21, 2020
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotypeAurora Currò, Gabriella Doddato, Mirella Bruttini, et al.
Ophthalmic Genetics|September 23, 2021
Novel retinal finding in a patient with 4q12 deletionMario Fruschelli, Nicola Lorusso, Theodora Hadjistilianou, 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.
Frontiers in Medicine|December 17, 2020
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 CasesAntonio Mastrangelo, Marisa Giani, Elena Groppali, et al.
Transplantation|January 3, 2020
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney TransplantationAnna Maria Pinto, Sergio Daga, Chiara Fallerini, et al.
Neuromuscular Disorders : NMD|October 24, 2015
Dropped-head in recessive oculopharyngeal muscular dystrophyMatteo Garibaldi, Elena Maria Pennisi, Mirella Bruttini, et al.
BMC Genomics|March 13, 2024
De novo assembly and annotation of Popillia japonica's genome with initial clues to its potential as an invasive pestClaudio Cucini, Sara Boschi, Rebecca Funari, 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 5