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Sabrina Giglio

Sabrina Giglio,Università degli Studi di Firenze,Genetics & Genealogy,Urology,Biophysics

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Sabrina Giglio

Università degli Studi di Firenze

Publications: 49 | Citations: 712

Fields: Genetics & Genealogy, Urology, Biophysics

Collaborated with 312 co-authors from 1995 to 2012 | Cited by 3130 authors

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Publications (49)

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De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

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Journal: PLOS One , vol. 7, no. 6, 2012

Multiorgan Infiltration by CD8+ T Cells and 1p;16p Translocation in a Patient with Hypogammaglobulinemia and a Reduced Number of B Cells

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Journal: International Archives of Allergy and Immunology - INT ARCH ALLERGY IMMUNOL , vol. 158, pp. 206-210, 2012

Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis (Citations: 1)

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Journal: Pediatric Nephrology - PEDIAT NEPHROL , vol. 26, no. 2, pp. 323-324, 2011

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

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Journal: PLOS Genetics - PLOS GENET , vol. 7, no. 7, 2011

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

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Journal: Orphanet Journal of Rare Diseases - ORPHANET J RARE DIS , vol. 6, no. 1, pp. 1-8, 2011

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Citations (712 times by 572 publications)

Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

, , , , , , , , , , , http://academic.research.microsoft.com/io.ashx?type=5&id=57409877&selfId1=4258778&selfId2=0&maxNumber=12&query=

Journal: PLOS Genetics - PLOS GENET , vol. 8, no. 5, 2012

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

, , , , , , , , , , , http://academic.research.microsoft.com/io.ashx?type=5&id=57405590&selfId1=4258778&selfId2=0&maxNumber=12&query=

Journal: PLOS One , vol. 7, no. 6, 2012

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

, , , , , , , , , , , http://academic.research.microsoft.com/io.ashx?type=5&id=56548420&selfId1=4258778&selfId2=0&maxNumber=12&query=

Journal: European Journal of Human Genetics - EUR J HUMAN GENET , vol. 20, no. 1, pp. 33-40, 2012

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance

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Journal: European Journal of Human Genetics - EUR J HUMAN GENET , vol. 20, no. 2, pp. 155-160, 2012

Size Does Matter: Donor Renal Volume Predicts Recipient Function Following Live Donor Renal Transplantation (Citations: 1)

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Journal: Journal of Urology - J UROL , vol. 185, no. 2, pp. 605-609, 2011

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Co-authors (312)

Journals (24)

Keywords (120)

Sabrina Giglio,Università degli Studi di Firenze,Genetics & Genealogy,Urology,Biophysics

Publications (49)

BibTeX | RIS | RefWorks Download

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

Multiorgan Infiltration by CD8+ T Cells and 1p;16p Translocation in a Patient with Hypogammaglobulinemia and a Reduced Number of B Cells

Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis (Citations: 1)

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

Citations (712 times by 572 publications)

Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance

Size Does Matter: Donor Renal Volume Predicts Recipient Function Following Live Donor Renal Transplantation (Citations: 1)


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Sabrina Giglio,Università degli Studi di Firenze,Genetics & Genealogy,Urology,Biophysics

Publications (49) BibTeX | RIS | RefWorks Download

Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis (Citations: 1)

Size Does Matter: Donor Renal Volume Predicts Recipient Function Following Live Donor Renal Transplantation (Citations: 1)

Publications (49)

BibTeX | RIS | RefWorks Download