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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine

Clinical genetics, 2016-04, Vol.89 (4), p.403-415

2016

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Fetal growth patterns in Beckwith-Wiedemann syndrome

Clinical genetics, 2016-07, Vol.90 (1), p.21-27

2016

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Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

American journal of neuroradiology : AJNR, 2022-07, Vol.43 (7), p.1048-1053

2022

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38 Reduction of activity of Arylsulfatasi B in patient with Cystic Fibrosis

Journal of cystic fibrosis, 2007, Vol.6, p.S9-S9

2007

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Multi-system disorder and severe recurrent rhabdomyolysis due to TANGO2 mutations in a 3-year-old child

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S41-S42

2018

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OD19 - Multi-system disorder and severe recurrent rhabdomyolysis due to TANGO2 mutations in a 3-year-old child

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S41-S42

2018

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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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A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting

Clinical and experimental dermatology, 2009-12, Vol.34 (8), p.e726-e728

2009

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Heart rate variability in childhood obesity

Clinical autonomic research, 2001-04, Vol.11 (2), p.87-91

2001

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An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

Human molecular genetics, 1995-10, Vol.4 (10), p.1821-1827

1995

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AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome

European journal of medical genetics, 2006-11, Vol.49 (6), p.520-522

2006

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A high resolution deletion map of human chromosome Xp22

Nature genetics, 1993-07, Vol.4 (3), p.272-279

1993

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A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q 13

Journal of medical genetics, 2003-06, Vol.40 (6), p.431-435

2003

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Changes in autonomic tone during the time course of obesity induced hypertension in adolescents

American journal of hypertension, 2000-06, Vol.13 (4), p.S167-S168

2000

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A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome

Clinical dysmorphology, 2002-10, Vol.11 (4), p.293-294

2002

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E011: Changes in autonomic tone during the time course of obesity induced hypertension in adolescents

American journal of hypertension, 2000-04, Vol.13 (S2), p.167A-168A

2000

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Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization

American journal of medical genetics, 1994-01, Vol.49 (2), p.229-234

1994

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A Yeast Artificial Chromosome Contig Linking the Steroid Sulfatase and Kallmann Syndrome Loci on the Human X Chromosome Short Arm

Genomics (San Diego, Calif.), 1993-10, Vol.18 (1), p.1-6

1993

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Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy

Human genetics, 1990-11, Vol.86 (1), p.69-72

1990

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Laparoscopic liver resection of hepatocellular carcinoma located in unfavaroble segments: a propensity score-matched analysis from the Italian group of minimally invasive liver surgery registry

HPB (Oxford, England), 2018-09, Vol.20, p.S268-S268

2018

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Antiproton–neon annihilation at 57 MeV/c

Physics letters. B, 2000-05, Vol.481 (2), p.194-198

2000

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Production of η' mesons in the pp→ ppη' reaction at 3.67 GeV/ c

Physics letters. B, 2000-10, Vol.491 (1), p.29-35

2000

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Antiproton–helium 3 annihilation at 55 MeV/ c

Physics letters. B, 2000, Vol.492 (3), p.254-258

2000

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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Fetal growth patterns in Beckwith-Wiedemann syndrome

Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

38 Reduction of activity of Arylsulfatasi B in patient with Cystic Fibrosis

Multi-system disorder and severe recurrent rhabdomyolysis due to TANGO2 mutations in a 3-year-old child

OD19 - Multi-system disorder and severe recurrent rhabdomyolysis due to TANGO2 mutations in a 3-year-old child

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

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting

Heart rate variability in childhood obesity

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome

A high resolution deletion map of human chromosome Xp22

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q 13

Changes in autonomic tone during the time course of obesity induced hypertension in adolescents

A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome

E011: Changes in autonomic tone during the time course of obesity induced hypertension in adolescents

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization

A Yeast Artificial Chromosome Contig Linking the Steroid Sulfatase and Kallmann Syndrome Loci on the Human X Chromosome Short Arm

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy

Laparoscopic liver resection of hepatocellular carcinoma located in unfavaroble segments: a propensity score-matched analysis from the Italian group of minimally invasive liver surgery registry

Antiproton–neon annihilation at 57 MeV/c

Antiproton stopping power in He in the energy range 1–900 keV and the Barkas effect

Production of η' mesons in the pp→ ppη' reaction at 3.67 GeV/ c

Antiproton–helium 3 annihilation at 55 MeV/ c

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