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1 . Academic Journal
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease
저자
by
Luca Bosa
;
Vritika Batura
;
Davide Colavito
;
Karoline Fiedler
;
Paola Gaio
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency
저자
by
Lorenza Matarazzo
;
Valentina Ragnoni
;
Cristina Malaventura
;
Alberta Leon
;
Davide Colavito
, et al.
소스
JIMD Reports, Vol 54, Iss 1, Pp 25-31 (2020)
Open Access (Wiley)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant
저자
by
Antonio Marzollo
;
Silvia Bresolin
;
Davide Colavito
;
Alice Cani
;
Paola Gaio
, et al.
소스
Frontiers in Pediatrics, Vol 9 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
A novel CACNA1A R2201W variant in a woman with hemiplegic migraine
저자
by
Giacomo Baso
;
Francesco Mele
;
Elda Del Giudice
;
Alberta Leon
;
Leonardo Pantoni
.
소스
Neurological Sciences
.
Scopus
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7 .
Study of arginine metabolism in medication overuse chronic migraine: possible defect in NO synthesis
저자
by
Giuseppe Giordano
;
Antonina Gucciardi
;
Alberta Leon
;
Giovanni D'Andrea
;
Gennaro Bussone
.
소스
Neurological Sciences
. 43:2745-2749
Web of Science
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7 .
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
저자
by
Giorgio Perilongo
;
Luca Bosa
;
Mara Cananzi
;
Alberta Leon
;
Huie Jing
, et al.
소스
Hum Genet
Open Access (OpenAIRE)
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7 .
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease
저자
by
Mara Cananzi
;
Giorgio Perilongo
;
Alberta Leon
;
Scott B. Snapper
;
Luca Bosa
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports
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7 .
Elusive amines: migraine depends on biochemical abnormalities
저자
by
Giovanni D’Andrea
;
Antonina Gucciardi
;
Alberta Leon
.
소스
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
. 43(11)
Scopus
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5 .
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
저자
by
Salvatore Iacono
;
Elda Del Giudice
;
Alberta Leon
;
Vincenzo La Bella
;
Rossella Spataro
, et al.
소스
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7 .
Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency
저자
by
Giovanni Lanza
;
Alberta Leon
;
Giovanni Battista Vigna
;
Giuseppe Maggiore
;
Davide Colavito
, et al.
소스
JIMD Reports, Vol 54, Iss 1, Pp 25-31 (2020)
JIMD Reports
Open Access (Wiley)
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Scopus
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