PERRONE, MARIA DOLORES

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					PERRONE, MARIA DOLORES
				
	Afferenza
	
					Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute
				
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Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?

2014-01-01 Vuckovic, Dragana; Bruno, Dallapiccola; Annamaria, Franzè; Lucia, Mauri; Perrone, MARIA DOLORES; Gasparini, Paolo

De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

2012-01-01 Fabretto, Antonella; Rocca, Maria Santa; Perrone, Maria Dolores; Skabar, Aldo; Pecile, Vanna; Gasparini, Paolo

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

2012-01-01 Perrone, M. D.; Rocca, M. S.; Bruno, I.; Faletra, F.; Pecile, V.; Gasparini, P.

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4

2019-01-01 Bottega, R.; Perrone, M. D.; Vecchiato, K.; Taddio, A.; Sabui, S.; Pecile, V.; Said, H. M.; Faletra, F.

Titolo	Data di pubblicazione	Autori
Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?	1-gen-2014	VUCKOVIC, DRAGANABruno DallapiccolaAnnamaria FranzèLucia MauriPERRONE, MARIA DOLORESGASPARINI, PAOLO + -
De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features	1-gen-2012	Fabretto, AntonellaRocca, Maria SantaPerrone, Maria DoloresSkabar, AldoPecile, VannaGasparini, Paolo + -
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature	1-gen-2012	Perrone, M. D.Rocca, M. S.Bruno, I.Faletra, F.Pecile, V.Gasparini, P. + -
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4	1-gen-2019	Bottega R.Perrone M. D.Vecchiato K.Taddio A.Sabui S.Pecile V.Said H. M.Faletra F. + -

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PERRONE, MARIA DOLORES

Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?

De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4