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The use of platelet-rich plasma gel in superficial parotidectomy

Acta otorhino-laryngologica italica, 2019-12, Vol.39 (6), p.363-366

2019

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In-clinic secondary tracheoesophageal puncture and voice prosthesis placement in laryngectomees

European annals of otorhinolaryngology, head and neck diseases, 2018-10, Vol.135 (5), p.349-352

2018

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Ossicular chain lesions in cholesteatoma

Acta otorhino-laryngologica italica, 2012-10, Vol.32 (5), p.309-313

2012

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ACTA OTORHINOLARYNGOLOGICA ITALICA

Acta otorhino-laryngologica italica, 2016-10, Vol.36 (5), p.428-430

2016

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Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling

Clinical genetics, 2008-07, Vol.74 (1), p.54-60

2008

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Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

Journal of medical genetics, 2001-03, Vol.38 (3), p.151-158

2001

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Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

Neurology, 2003-06, Vol.60 (12), p.1961

2003

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Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome

Oncogene, 2010-11, Vol.29 (46), p.6102-6114

2010

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Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

Neurology, 2000-03, Vol.54 (6), p.1373

2000

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Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

American journal of medical genetics. Part A, 2005-04, Vol.134A (3), p.247-253

2005

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Diagnostic and therapeutic iter in paediatric OSAS: personal experience

Acta otorhino-laryngologica italica, 2011-06, Vol.31 (3), p.149-153

2011

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Plasma levels of amyloid beta-protein 42 are increased in women with mild cognitive impairment

Neurology, 2004-09, Vol.63 (5), p.828

2004

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing

Prenatal diagnosis, 2006-05, Vol.26 (5), p.487-489

2006

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Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis

Child : care, health & development, 2005-05, Vol.31 (3), p.351-354

2005

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Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey

Prenatal diagnosis, 2004-08, Vol.24 (8), p.647-652

2004

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The Italian External Quality Assessment Scheme in Classical Cytogenetics: Four Years of Activity

Community genetics, 2008-05, Vol.11 (5), p.295-303

2008

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Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations

Prenatal diagnosis, 2003-10, Vol.23 (10), p.819-823

2003

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Ponction trachéo-œsophagienne secondaire en consultation et pose d’implant phonatoire chez les laryngectomisés

Annales franc̦aises d'oto-rhino-laryngologie et de pathologie cervico-faciale, 2018-10, Vol.135 (5), p.343-346

2018

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A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease

Neurological sciences, 2005-12, Vol.26 (5), p.349-350

2005

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Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder

The Lancet (British edition), 2003-05, Vol.361 (9369), p.1617-1620

2003

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An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes

Clinical genetics, 1996-01, Vol.49 (1), p.32-36

1996

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Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker

British journal of haematology, 2004-06, Vol.125 (6), p.729-742

2004

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Journal of medical genetics, 2001-06, Vol.38 (6), p.417-420

2001

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Maternal uniparental disomy for chromosome 14

Acta geneticae medicae et gemellologiae, 1996, Vol.45 (1-2), p.169

1996

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Psychomotor development in Cri du Chat Syndrome

Clinical genetics, 2000-06, Vol.57 (6), p.459-461

2000

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The use of platelet-rich plasma gel in superficial parotidectomy

In-clinic secondary tracheoesophageal puncture and voice prosthesis placement in laryngectomees

Ossicular chain lesions in cholesteatoma

ACTA OTORHINOLARYNGOLOGICA ITALICA

Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

Diagnostic and therapeutic iter in paediatric OSAS: personal experience

Plasma levels of amyloid beta-protein 42 are increased in women with mild cognitive impairment

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis

Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey

The Italian External Quality Assessment Scheme in Classical Cytogenetics: Four Years of Activity

Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations

Ponction trachéo-œsophagienne secondaire en consultation et pose d’implant phonatoire chez les laryngectomisés

A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease

Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder

An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes

Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Maternal uniparental disomy for chromosome 14

Psychomotor development in Cri du Chat Syndrome

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