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1 . Academic Journal
A 17q duplication prenatally detected
저자
by
Rossella Bruno
;
Angelo Valetto
;
Veronica Bertini
;
Cinzia Cosini
;
Benedetta Toschi
, et al.
소스
Taiwanese Journal of Obstetrics & Gynecology, Vol 54, Iss 3, Pp 326-329 (2015)
Full Text (ScienceDirect)
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7 . Academic Journal
Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion
저자
by
Lucio Tremolizzo
;
Gessica Sala
;
Elisa Conti
;
Virginia Rodriguez-Menendez
;
Antonella Fogli
, et al.
소스
Case Reports in Neurological Medicine, Vol 2014 (2014)
Open Access (DOAJ)
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7 .
DPYD*6 plays an important role in fluoropyrimidine toxicity in addition to DPYD*2A and c.2846A>T: a comprehensive analysis in 1254 patients
저자
by
Samantha Di Donato
;
Marta Schirripa
;
Alfredo Butera
;
Evaristo Maiello
;
Filippo Pietrantonio
, et al.
소스
The Pharmacogenomics Journal
Open Access (OpenAIRE)
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7 .
Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant
저자
by
Erica Quaquarini
;
Raffaella Palumbo
;
Federico Sottotetti
;
Romano Danesi
;
Marzia Del Re
, et al.
소스
Pharmacogenomics
. 17:5-9
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7 .
Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia
저자
by
Maria Di Cicco
;
Gennaro Tartarisco
;
Attilio Boner
;
Andrew Bush
;
Paolo Simi
, et al.
소스
Pediatric Pulmonology
. 50:179-186
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7 .
FOLFOXIRI plus bevacizumab as first-line treatment in BRAF mutant metastatic colorectal cancer
저자
by
Elisa Sensi
;
Elisabetta Pfanner
;
Lisa Salvatore
;
Francesca Bergamo
;
Carlotta Antoniotti
, et al.
소스
European Journal of Cancer
. 50:57-63
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7 .
Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion
저자
by
Virginia Rodriguez-Menendez
;
Carlo Ferrarese
;
Angela Michelucci
;
Antonella Fogli
;
Paolo Simi
, et al.
소스
Case Reports in Neurological Medicine, Vol 2014 (2014)
Case Reports in Neurological Medicine
Open Access (OpenAIRE)
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7 .
NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development
저자
by
Benedetta Toschi
;
Fulvia Baldinotti
;
Silvano Bertelloni
;
Giacinto Marrocco
;
Eleonora Dati
, et al.
소스
Hormone Research in Paediatrics; Vol 81
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7 .
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation
저자
by
Mario Messina
;
Chiara Di Marco
;
Fulvia Baldinotti
;
Caterina Lo Rizzo
;
Laura Dosa
, et al.
소스
Gene
. 526:490-493
Web of Science
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7 .
A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism
저자
by
Veronica Bertini
;
Benedetta Toschi
;
Paolo Simi
;
Angelo Valetto
.
소스
American Journal of Medical Genetics Part A
. 161:2389-2392
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