Failla, Pinella: search on Z-Library

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1

SKIN-PICKING: THE BEST CUTANEOUS FEATURE IN THE RECOGNIZATION OF PRADER-WILLI SYNDROME

CARMELO SCHEPIS, PINELLA FAILLA, MADDALENA SIRAGUSA, CORRADO ROMANO

Journal:

International Journal of Dermatology

Year:

1994

Language:

english

File:

PDF, 2.33 MB

english, 1994

2

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

Calì, Francesco, Chiavetta, Valeria, Ruggeri, Giuseppa, Piccione, Maria, Selicorni, Angelo, Palazzo, Daniela, Bonsignore, Maria, Cereda, Anna, Elia, Maurizio, Failla, Pinella, Figura, Maria Grazia, Fi

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 814 KB

english, 2016

3

Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study

Bonamico, Margherita, Mariani, Paolo, Danesi, Helene Maria, Crisogianni, Massimo, Failla, Pinella, Gemme, Gerolamo, Quartino, Alberto Rasore, Giannotti, Aldo, Castro, Massimo, Balli, Fiorella, Lecora,

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2001

Language:

english

File:

PDF, 198 KB

english, 2001

4

12q12 deletion: A new patient contributing to genotype–phenotype correlation

Pinella Failla, Corrado Romano, Santina Reitano, Daniela Di Benedetto, Lucia Grillo, Marco Fichera, Lucia Castiglia

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 121 KB

english, 2008

5

Hypomelanosis of Ito: A syndrome requiring a multisystem approach

Pinella Failla, Corrado Romano, Carmelo Schepis

Journal:

Australasian Journal of Dermatology

Year:

1997

Language:

english

File:

PDF, 3.56 MB

english, 1997

6

Failure of fluoxetine to modify the skin-picking behaviour of Prader-Willi syndrome

Carmelo Schepis, Pinella Failla, Maddalena Siragusa, Rosaria Palazzo, Corrado Romano

Journal:

Australasian Journal of Dermatology

Year:

1998

Language:

english

File:

PDF, 145 KB

english, 1998

7

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessand

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 889 KB

english, 2015

8

Growth hormone subnormality in down syndrome

Letizia Ragusa, Corrado Romano, Pinella Failla, Caterina Proto, Fabio Colabucci

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 127 KB

english, 1992

9

An Additional Case of Macular Phylloid Mosaicism

Schepis, Carmelo, Failla, Pinella, Siragusa, Maddalena, Romano, Corrado

Journal:

Year:

2001

Language:

english

File:

PDF, 138 KB

english, 2001

10

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

Fichera, Marco, Failla, Pinella, Saccuzzo, Lucia, Miceli, Martina, Salvo, Eliana, Castiglia, Lucia, Galesi, Ornella, Grillo, Lucia, Calì, Francesco, Greco, Donatella, Amato, Carmelo, Romano, Corrado,

Journal:

Year:

2019

Language:

english

File:

PDF, 3.65 MB

english, 2019

11

Recurrent duplications of 17q12 associated with variable phenotypes

Mitchell, Elyse, Douglas, Andrew, Kjaegaard, Susanne, Callewaert, Bert, Vanlander, Arnaud, Janssens, Sandra, Yuen, Amy Lawson, Skinner, Cindy, Failla, Pinella, Alberti, Antonino, Avola, Emanuela, Fich

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 372 KB

english, 2015

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