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1 . Academic Journal
Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders
저자
by
Palumbo, Orazio
;
Accadia, Maria
;
Palumbo, Pietro
;
Leone, Maria Pia
;
Scorrano, Antonio
, et al.
소스
In
European Journal of Medical Genetics
May 2018 61(5):248-252
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7 . Periodical
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAPvariant causing DEHMBA syndrome with severe sleep disorder
저자
by
Morlino, Silvia
;
Vaccaro, Lorenzo
;
Leone, Maria Pia
;
Nardella, Grazia
;
Bisceglia, Luigi
, et al.
소스
Journal of Human Genetics; June 2024, Vol. 69 Issue: 6 p287-290, 4p
Web of Science
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7 . Academic Journal
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
저자
by
Morlino, Silvia
;
Vaccaro, Lorenzo
;
Leone, Maria Pia
;
Nardella, Grazia
;
Bisceglia, Luigi
, et al.
소스
Journal of Human Genetics
. 69(6):287-290
Web of Science
Scopus
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7 . Academic Journal
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
저자
by
Leone, Maria Pia
;
Morlino, Silvia
;
Nardella, Grazia
;
Pracella, Riccardo
;
Giachino, Daniela
, et al.
소스
Human Genetics
. Jun2023, Vol. 142 Issue 6, p785-808. 24p.
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7 . Academic Journal
Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation.
저자
by
Maggio, Angela
;
Mastroianno, Sandra
;
Di Stolfo, Giuseppe
;
Castellana, Stefano
;
Palumbo, Pietro
, et al.
소스
Cardiogenetics
. Mar2022, Vol. 12 Issue 1, p80-88. 9p.
Web of Science
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7 . Academic Journal
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family.
저자
by
Ortore, Rocco Pio
;
Leone, Maria Pia
;
Palumbo, Orazio
;
Petracca, Antonio
;
Trecca, Eleonora M. C.
, et al.
소스
Audiology Research
. 2021, Vol. 11 Issue 3, p443-451. 9p.
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7 . Academic Journal
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
저자
by
Leone, Maria Pia
;
Palumbo, Pietro
;
Palumbo, Orazio
;
Di Muro, Ester
;
Chetta, Massimiliano
, et al.
소스
Italian Journal of Pediatrics
. 5/27/2020, Vol. 46 Issue 1, p1-9. 9p.
Open Access (BioMed Central)
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7 . Academic Journal
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.
저자
by
Mastroianno, Sandra
;
Palumbo, Pietro
;
Castellana, Stefano
;
Leone, Maria Pia
;
Massaro, Raimondo
, et al.
소스
Annals of Noninvasive Electrocardiology; May2020, Vol. 25 Issue 3, p1-5, 5p
Open Access (Wiley)
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7 . Academic Journal
Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma.
저자
by
Cinque, Luigia
;
Pugliese, Flavia
;
Clemente, Celeste
;
Castellana, Stefano
;
Leone, Maria Pia
, et al.
소스
International Journal of Endocrinology
. 4/27/2020, p1-5. 5p.
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7 . Academic Journal
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete.
저자
by
Castellana, Stefano
;
Mastroianno, Sandra
;
Palumbo, Pietro
;
Palumbo, Orazio
;
Biagini, Tommaso
, et al.
소스
Journal of Electrocardiology; Mar2019, Vol. 53, p95-99, 5p
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