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1 . Academic Journal
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
저자
by
Rapini, Novella
;
Delvecchio, Maurizio
;
Mucciolo, Mafalda
;
Ruta, Rosario
;
Rabbone, Ivana
, et al.
소스
Journal of Clinical Endocrinology & Metabolism; Sep2024, Vol. 109 Issue 9, p2349-2357, 9p
Full Text (OUP)
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7 . Academic Journal
Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism
저자
by
Ponzi, Emanuela
;
Maiorana, Arianna
;
Lepri, Francesca Romana
;
Mucciolo, Mafalda
;
Semeraro, Michela
, et al.
소스
In
The Journal of Pediatrics
November 2018 202:272-278
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7 . Academic Journal
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
저자
by
Dentici, Maria Lisa
;
Niceta, Marcello
;
Lepri, Francesca Romana
;
Mancini, Cecilia
;
Priolo, Manuela
, et al.
소스
European Journal of Human Genetics
. 32(8):954-963
Web of Science
Scopus
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7 . Periodical
Loss-of-function variants in ERFare associated with a Noonan syndrome-like phenotype with or without craniosynostosis
저자
by
Dentici, Maria Lisa
;
Niceta, Marcello
;
Lepri, Francesca Romana
;
Mancini, Cecilia
;
Priolo, Manuela
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-10, 10p
Web of Science
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7 . Academic Journal
Monogenic diabetes clinic (MDC): 3-year experience.
저자
by
Rapini, Novella
;
Patera, Patrizia I.
;
Schiaffini, Riccardo
;
Ciampalini, Paolo
;
Pampanini, Valentina
, et al.
소스
Acta Diabetologica
. Jan2023, Vol. 60 Issue 1, p61-70. 10p.
Web of Science
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7 . Academic Journal
Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.
저자
by
McClenaghan, Conor
;
Rapini, Novella
;
De Rose, Domenico Umberto
;
Gao, Jian
;
Roeglin, Jacob
, et al.
소스
Hormone Research in Paediatrics
. 2022, Vol. 95 Issue 3, p215-223. 9p.
Web of Science
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7 . Academic Journal
A rare cause of transient neonatal diabetes mellitus: Spontaneous HNF1B splice variant.
저자
by
Pezzino, Giulia
;
Ruta, Rosario
;
Rapini, Novella
;
Chiodo, Danilo Castellano
;
Mucciolo, Mafalda
, et al.
소스
Diabetic Medicine
. Feb2024, Vol. 41 Issue 2, p1-2. 2p.
Full Text (Wiley)
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7 . Academic Journal
Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin.
저자
by
Bizzarri, Carla
;
Giannone, Germana Antonella
;
Gervasoni, Jacopo
;
Benedetti, Sabina
;
Albanese, Federica
, et al.
소스
Journal of Clinical Research in Pediatric Endocrinology
. Sep2021, Vol. 13 Issue 3, p347-352. 6p.
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7 . Academic Journal
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
저자
by
Yamamoto, Toshiyuki
;
Mencarelli, Maria Antonietta
;
Di Marco, Chiara
;
Mucciolo, Mafalda
;
Vascotto, Marina
, et al.
소스
In
European Journal of Medical Genetics
March 2014 57(4):163-168
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7 . Academic Journal
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
저자
by
Chinton, Josefina
;
Huckstadt, Victoria
;
Mucciolo, Mafalda
;
Lepri, Francesca
;
Novelli, Antonio
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2020, Vol. 182 Issue 2, p409-414, 6p
Web of Science
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