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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 1 |
2019 | 4 |
2020 | 1 |
2024 | 0 |
Search Results
6 results
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Page 1
Genetic Counseling and NGS Screening for Recessive LGMD2A Families.
High Throughput. 2020 May 10;9(2):13. doi: 10.3390/ht9020013.
High Throughput. 2020.
PMID: 32397577
Free PMC article.
NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene.
Strafella C, Caputo V, Pagliaroli G, Iozzo N, Campoli G, Carboni S, Peconi C, Galota RM, Zampatti S, Minozzi G, Novelli G, Giardina E, Cascella R.
Strafella C, et al. Among authors: galota rm.
Genes (Basel). 2019 Oct 12;10(10):792. doi: 10.3390/genes10100792.
Genes (Basel). 2019.
PMID: 31614793
Free PMC article.
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The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Strafella C, Caputo V, Galota RM, Campoli G, Bax C, Colantoni L, Minozzi G, Orsini C, Politano L, Tasca G, Novelli G, Ricci E, Giardina E, Cascella R.
Strafella C, et al. Among authors: galota rm.
Hum Mol Genet. 2019 Dec 1;28(23):3912-3920. doi: 10.1093/hmg/ddz239.
Hum Mol Genet. 2019.
PMID: 31600781
Free PMC article.
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Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.
Strafella C, Campoli G, Galota RM, Caputo V, Pagliaroli G, Carboni S, Zampatti S, Peconi C, Mela J, Sancricca C, Primiano G, Minozzi G, Servidei S, Cascella R, Giardina E.
Strafella C, et al. Among authors: galota rm.
Front Neurol. 2019 Jun 13;10:619. doi: 10.3389/fneur.2019.00619. eCollection 2019.
Front Neurol. 2019.
PMID: 31263448
Free PMC article.
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Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Zampatti S, Colantoni L, Strafella C, Galota RM, Caputo V, Campoli G, Pagliaroli G, Carboni S, Mela J, Peconi C, Gambardella S, Cascella R, Giardina E.
Zampatti S, et al. Among authors: galota rm.
Neurogenetics. 2019 May;20(2):57-64. doi: 10.1007/s10048-019-00575-4. Epub 2019 Mar 25.
Neurogenetics. 2019.
PMID: 30911870
Review.
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Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.
Cascella R, Strafella C, Caputo V, Galota RM, Errichiello V, Scutifero M, Petillo R, Marella GL, Arcangeli M, Colantoni L, Zampatti S, Ricci E, Deidda G, Politano L, Giardina E.
Cascella R, et al. Among authors: galota rm.
Front Neurol. 2018 Nov 28;9:1027. doi: 10.3389/fneur.2018.01027. eCollection 2018.
Front Neurol. 2018.
PMID: 30546343
Free PMC article.
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