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1 . Academic Journal
Long read sequencing on its way to the routine diagnostics of genetic diseases
저자
by
Giulia Olivucci
;
Emanuela Iovino
;
Giovanni Innella
;
Daniela Turchetti
;
Tommaso Pippucci
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
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7 . Academic Journal
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
저자
by
Maria Chiara Pelleri
;
Chiara Locatelli
;
Teresa Mattina
;
Maria Clara Bonaglia
;
Francesca Piazza
, et al.
소스
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-12 (2022)
Open Access (BioMed Central)
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7 . Academic Journal
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
저자
by
Caterina Marconi
;
Alessandro Pecci
;
Flavia Palombo
;
Federica Melazzini
;
Roberta Bottega
, et al.
소스
Haematologica, Vol 108, Iss 7 (2022)
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7 . Academic Journal
Characterization of BRCA Deficiency in Ovarian Cancer
저자
by
Giovanna Barbero
;
Roberta Zuntini
;
Pamela Magini
;
Laura Desiderio
;
Michela Bonaguro
, et al.
소스
Cancers, Vol 15, Iss 5, p 1530 (2023)
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7 . Academic Journal
Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature
저자
by
Daniele Zama
;
Edoardo Muratore
;
Arianna Giannetti
;
Iria Neri
;
Francesca Conti
, et al.
소스
Frontiers in Pediatrics, Vol 9 (2021)
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7 . Academic Journal
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9
저자
by
Pamela Magini
;
Clara Marco‐Marin
;
Juan M. Escamilla‐Honrubia
;
Diego Martinelli
;
Carlo Dionisi-Vici
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1533-1540 (2019)
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7 . Academic Journal
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force
저자
by
Berardo Rinaldi
;
Alessandro Vaisfeld
;
Sergio Amarri
;
Chiara Baldo
;
Giuseppe Gobbi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
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7 . Academic Journal
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21
저자
by
Maria Chiara Pelleri
;
Elena Cicchini
;
Michael B. Petersen
;
Lisbeth Tranebjærg
;
Teresa Mattina
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
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7 . Academic Journal
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism
저자
by
Emanuele Panza
;
Diego Martinelli
;
Pamela Magini
;
Carlo Dionisi Vici
;
Marco Seri
.
소스
Frontiers in Neurology, Vol 10 (2019)
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7 . Academic Journal
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells
저자
by
Cristina Bertulli
;
Antonio Marzollo
;
Margherita Doria
;
Silvia Di Cesare
;
Claudio La Scola
, et al.
소스
International Journal of Molecular Sciences, Vol 21, Iss 22, p 8604 (2020)
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