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Joseph Hayek

Showing results (11-20 of 19) with videos related to

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Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|February 16, 2010
EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndromeSabrina Buoni, Raffaella Zannolli, Claudio De Felice, et al.
Journal of Child Neurology|January 10, 2008
Polydactyly with ectodermal defect, osteopenia, and mental delayRaffaella Zannolli, Sabrina Buoni, Massimo Viviano, et al.
Brain & Development|December 19, 2006
Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and GRaffaella Zannolli, Sabrina Buoni, Francesca Macucci, et al.
Journal of Child Neurology|May 23, 2009
[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency caseMaria Tassini, Raffaella Zannolli, Sabrina Buoni, et al.
Brain & Development|January 30, 2008
New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challengeRaffaella Zannolli, Sabrina Buoni, Margherita de Santi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2012
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasiaRaffaella Zannolli, Sabrina Buoni, Gianni Betti, et al.
NMR in Biomedicine|March 17, 2009
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluidsUdo F H Engelke, Maria Tassini, Joseph Hayek, et al.
Human Mutation|October 8, 2009
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signalingMaria Valencia, Pablo Lapunzina, Derek Lim, et al.
NMR in Biomedicine|February 27, 2010
Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunctionRaffaella Zannolli, Sabrina Buoni, Maria Tassini, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|February 16, 2010
EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndromeSabrina Buoni, Raffaella Zannolli, Claudio De Felice, et al.
Journal of Child Neurology|January 10, 2008
Polydactyly with ectodermal defect, osteopenia, and mental delayRaffaella Zannolli, Sabrina Buoni, Massimo Viviano, et al.
Brain & Development|December 19, 2006
Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and GRaffaella Zannolli, Sabrina Buoni, Francesca Macucci, et al.
Journal of Child Neurology|May 23, 2009
[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency caseMaria Tassini, Raffaella Zannolli, Sabrina Buoni, et al.
Brain & Development|January 30, 2008
New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challengeRaffaella Zannolli, Sabrina Buoni, Margherita de Santi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2012
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasiaRaffaella Zannolli, Sabrina Buoni, Gianni Betti, et al.
NMR in Biomedicine|March 17, 2009
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluidsUdo F H Engelke, Maria Tassini, Joseph Hayek, et al.
Human Mutation|October 8, 2009
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signalingMaria Valencia, Pablo Lapunzina, Derek Lim, et al.
NMR in Biomedicine|February 27, 2010
Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunctionRaffaella Zannolli, Sabrina Buoni, Maria Tassini, et al.
Pageof 2