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21 . Academic Journal
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing
저자
by
Bonnal, Raoul Jean Pierre
;
Severgnini, Marco
;
Castaldi, Alessandra
;
Bordoni, Roberta
;
Iacono, Michele
, et al.
소스
In
Analytical Biochemistry
2010 406(2):176-184
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27 . Academic Journal
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography
저자
by
Torella, Annalaura
;
Trimarco, Amelia
;
Del Vecchio Blanco, Francesca
;
Cuomo, Anna
;
Aurino, Stefania
, et al.
소스
In
The Journal of Molecular Diagnostics
2010 12(1):65-73
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27 . Academic Journal
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
저자
by
Stegmann, Jil D.
;
Kalanithy, Jeshurun C.
;
Dworschak, Gabriel C.
;
Ishorst, Nina
;
Mingardo, Enrico
, et al.
소스
npj Genomic Medicine
. 9(1)
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27 . Academic Journal
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
저자
by
Accogli, Andrea
;
Shakya, Saurabh
;
Yang, Taewoo
;
Insinna, Christine
;
Kim, Soo Yeon
, et al.
소스
Nature Communications
. 15(1)
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27 . Academic Journal
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
저자
by
Morleo, Manuela
;
Venditti, Rossella
;
Theodorou, Evangelos
;
Briere, Lauren C.
;
Rosello, Marion
, et al.
소스
American Journal of Human Genetics
. Aug2023, Vol. 110 Issue 8, p1377-1393. 17p.
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27 . Academic Journal
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.
저자
by
Torella, Annalaura
;
Budillon, Alberto
;
Zanobio, Mariateresa
;
Del Vecchio Blanco, Francesca
;
Picillo, Esther
, et al.
소스
International Journal of Molecular Sciences
. Jun2023, Vol. 24 Issue 11, p9241. 9p.
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27 . Academic Journal
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
저자
by
Sambri, Irene
;
Ferniani, Marco
;
Campostrini, Giulia
;
Testa, Marialuisa
;
Meraviglia, Viviana
, et al.
소스
Nature Communications; 5/15/2023, Vol. 14 Issue 1, p1-13, 13p
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27 . Academic Journal
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies.
저자
by
Zacchia, Miriam
;
Capolongo, Giovanna
;
Del Vecchio Blanco, Francesca
;
Secondulfo, Floriana
;
Gupta, Neha
, et al.
소스
Genes
. Mar2023, Vol. 14 Issue 3, p764. 12p.
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27 . Academic Journal
Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy.
저자
by
Pasquali, Daniela
;
Torella, Annalaura
;
Grandone, Anna
;
Luongo, Caterina
;
Morleo, Manuela
, et al.
소스
American Journal of Medical Genetics. Part A; Mar2023, Vol. 191 Issue 3, p823-830, 8p
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27 . Academic Journal
Streptozotocin-Induced Type 1 and 2 Diabetes Mellitus Mouse Models Show Different Functional, Cellular and Molecular Patterns of Diabetic Cardiomyopathy.
저자
by
Marino, Fabiola
;
Salerno, Nadia
;
Scalise, Mariangela
;
Salerno, Luca
;
Torella, Annalaura
, et al.
소스
International Journal of Molecular Sciences
. Jan2023, Vol. 24 Issue 2, p1132. 22p.
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