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The down-up bone bridge approach for cochlear and middle ear implants: Our experience in 34 patients

Clinical otolaryngology, 2012-04, Vol.37 (2), p.158-161

2012

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Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy?

Clinical genetics, 2011-04, Vol.79 (4), p.394-395

2011

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Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epilepsy, detected by BAC genome array-CGH

Prague medical report, 2012, Vol.113 (4), p.279-288

2012

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ESAIC focused guideline for the use of cardiac biomarkers in perioperative risk evaluation

European journal of anaesthesiology, 2023-12, Vol.40 (12), p.888-927

2023

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Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia

Journal of clinical pharmacy and therapeutics, 2006-06, Vol.31 (3), p.283-287

2006

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New case of contiguous gene syndrome at chromosome 8p11.2p12

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.221-222

2005

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Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype

Genetic counseling, 2008-01, Vol.19 (4), p.381

2008

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A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis

Genetic counseling, 2008, Vol.19 (1), p.37

2008

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Partial proximal trisomy 10q syndrome: a new case

Genetic counseling, 2002, Vol.13 (4), p.411

2002

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Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17

Leukemia, 1996-10, Vol.10 (10), p.1655-1657

1996

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A rapid sample method for HLA haplotype typization. A preliminary study on celiac patients

Minerva stomatologica, 2010-09, Vol.59 (9), p.477

2010

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Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism

The New England journal of medicine, 1992-07, Vol.327 (1), p.57-57

1992

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DNA‐BASED DIAGNOSIS OF WILSON DISEASE

Journal of pediatric gastroenterology and nutrition, 1993-07, Vol.17 (1), p.112-113

1993

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Microbial Changes in Subgingival Plaque and Polymicrobial Intracellular Flora in Buccal Cells after Fixed Orthodontic Appliance Therapy: A Preliminary Study

International Journal of Dentistry, 2013-01, Vol.2013 (2013), p.353-357

2013

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Pseudomosaic centric fission of chromosome 4 in amniotic cells

Prenatal diagnosis, 1988-10, Vol.8 (8), p.629-631

1988

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Duplication of the terminal band of the long arm of chromosome 7: a new case

Genetic counseling, 2004, Vol.15 (1), p.87

2004

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Prenatal diagnosis of a double trisomy 48, XXY, +13: Klinefelter and Patau syndromes

American journal of medical genetics, 2005-01, Vol.132A (3), p.342-342

2005

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Iron overload and desferrioxamine chelation therapy in beta-thalassemia intermedia

European journal of pediatrics, 1981-11, Vol.137 (3), p.267-271

1981

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Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3)

Journal of applied genetics, 2008-01, Vol.49 (3), p.301-303

2008

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Trisomy 8 mosaicism in a patient born to a mother with 47,XXX

American journal of medical genetics, 2003-05, Vol.119A (1), p.85-86

2003

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Acute lymphoblastic leukemia in a child with constitutional ring chromosome 21

Cancer genetics and cytogenetics, 1987-08, Vol.27 (2), p.219-224

1987

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PHARMACOGENETICS: Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia

Journal of clinical pharmacy and therapeutics, 2006-06, Vol.31 (3), p.283-287

2006

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Iron chelation in transfusion-dependent thalassemia with chronic hepatitis

Acta haematologica, 1982, Vol.67 (1), p.49-56

1982

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X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter

American journal of medical genetics, 1992-04, Vol.43 (1-2), p.475-478

1992

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Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy?

Clinical genetics, 2011, Vol.79 (4), p.394-5; author reply 396

2011

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The down-up bone bridge approach for cochlear and middle ear implants: Our experience in 34 patients

Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy?

Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epilepsy, detected by BAC genome array-CGH

ESAIC focused guideline for the use of cardiac biomarkers in perioperative risk evaluation

Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia

New case of contiguous gene syndrome at chromosome 8p11.2p12

Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype

A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis

Partial proximal trisomy 10q syndrome: a new case

Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17

A rapid sample method for HLA haplotype typization. A preliminary study on celiac patients

Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism

DNA‐BASED DIAGNOSIS OF WILSON DISEASE

Microbial Changes in Subgingival Plaque and Polymicrobial Intracellular Flora in Buccal Cells after Fixed Orthodontic Appliance Therapy: A Preliminary Study

Pseudomosaic centric fission of chromosome 4 in amniotic cells

Duplication of the terminal band of the long arm of chromosome 7: a new case

Prenatal diagnosis of a double trisomy 48, XXY, +13: Klinefelter and Patau syndromes

Iron overload and desferrioxamine chelation therapy in beta-thalassemia intermedia

Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3)

Trisomy 8 mosaicism in a patient born to a mother with 47,XXX

Acute lymphoblastic leukemia in a child with constitutional ring chromosome 21

PHARMACOGENETICS: Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia

Iron chelation in transfusion-dependent thalassemia with chronic hepatitis

X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter

Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy?

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