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1 . Academic Journal
Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background
저자
by
Tomati, Valeria
;
Costa, Stefano
;
Capurro, Valeria
;
Pesce, Emanuela
;
Pastorino, Cristina
, et al.
소스
In
Journal of Cystic Fibrosis
May 2023 22(3):525-537
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7 . Academic Journal
A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors
저자
by
Bertoni, Arinna
;
Carta, Sonia
;
Baldovini, Chiara
;
Penco, Federica
;
Balza, Enrica
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
January 2020 145(1):368-378
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7 . Academic Journal
Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review.
저자
by
Dainelli, Alice
;
Iacomino, Michele
;
Rossato, Sara
;
Bugin, Samuela
;
Traverso, Monica
, et al.
소스
Epilepsia Open; Dec2023, Vol. 8 Issue 4, p1314-1330, 17p
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7 . Periodical
DAG1haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
저자
by
Traverso, Monica
;
Baratto, Serena
;
Iacomino, Michele
;
Di Duca, Marco
;
Panicucci, Chiara
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-8, 8p
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7 . Academic Journal
Evaluation of Chimerism Dynamics after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Nonmalignant Diseases
저자
by
Faraci, Maura
;
Bagnasco, Francesca
;
Leoni, Massimiliano
;
Giardino, Stefano
;
Terranova, Paola
, et al.
소스
In
Biology of Blood and Marrow Transplantation
May 2018 24(5):1088-1093
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7 . Academic Journal
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
저자
by
Ognibene, Marzia
;
Scala, Marcello
;
Iacomino, Michele
;
Schiavetti, Irene
;
Madia, Francesca
, et al.
소스
Cancers
. Mar2023, Vol. 15 Issue 6, p1916. 17p.
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7 . Academic Journal
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
저자
by
Chelleri, Cristina
;
Scala, Marcello
;
De Marco, Patrizia
;
Guerriero, Vittorio
;
Ognibene, Marzia
, et al.
소스
Human Mutation; 4/28/2023, p1-7, 7p
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7 . Academic Journal
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin
저자
by
Caridi, Gianluca
;
Berdeli, Afig
;
Dagnino, Monica
;
Di Duca, Marco
;
Mir, Sevgi
, et al.
소스
In
American Journal of Kidney Diseases
April 2004 43(4):727-732
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7 . Academic Journal
Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin
저자
by
Bertelli, Roberta
;
Ginevri, Fabrizio
;
Caridi, Gianluca
;
Dagnino, Monica
;
Sandrini, Silvio
, et al.
소스
In
American Journal of Kidney Diseases
June 2003 41(6):1314-1321
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7 . Academic Journal
Novel ACTG2 variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal pseudo‐obstruction.
저자
by
Matera, Ivana
;
Bordo, Domenico
;
Di Duca, Marco
;
Lerone, Margherita
;
Santamaria, Giuseppe
, et al.
소스
Clinical Genetics
. Mar2021, Vol. 99 Issue 3, p430-436. 7p.
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