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Academic Journal

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.

  • Authors : Modoni A; Department of Neuroscience, Catholic University, Rome, Italy.; D'Amico A

Subjects: Electric Stimulation/Electric Stimulation/Electric Stimulation/*methods ; Myotonia Congenita/Myotonia Congenita/Myotonia Congenita/*diagnosis ; Myotonia Congenita/Myotonia Congenita/Myotonia Congenita/*physiopathology

  • Source: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society [J Clin Neurophysiol] 2011 Feb; Vol. 28 (1), pp. 39-44.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8506708 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

A nationwide genetic testing survey in Italy, year 2007.

  • Authors : Dallapiccola B; IRCCS-Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, and CSS-Mendel Institute, Rome, Italy. ; Torrente I

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Genetic Testing*/Genetic Testing*/Genetic Testing*/organization & administration ; Genetic Testing*/Genetic Testing*/Genetic Testing*/standards

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2010 Feb; Vol. 14 (1), pp. 17-22.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

  • Authors : Chessa L; II School of Medicine, University La Sapienza, I-00189 Roma, Italy. ; Piane M

Subjects: Founder Effect* ; Mutation*; Ataxia Telangiectasia/Ataxia Telangiectasia/Ataxia Telangiectasia/*genetics

  • Source: Annals of human genetics [Ann Hum Genet] 2009 Sep; Vol. 73 (Pt 5), pp. 532-9.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print Cited Medium: Internet ISSN: 1469-1809

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Academic Journal

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.

  • Authors : De Luca A; IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.; Bottillo I

Subjects: Gene Deletion* ; Gene Dosage* ; Genes, Neurofibromatosis 1*

  • Source: Journal of medical genetics [J Med Genet] 2007 Dec; Vol. 44 (12), pp. 800-8.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Genetic testing in Italy, year 2004.

Subjects: Genetic Predisposition to Disease*; Genetic Testing/Genetic Testing/Genetic Testing/*statistics & numerical data ; Prenatal Diagnosis/Prenatal Diagnosis/Prenatal Diagnosis/*statistics & numerical data

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2006 Aug; Vol. 14 (8), pp. 911-6. Date of Electronic Publication: 2006 May 24.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

  • Authors : De Luca A; IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy. ; Schirinzi A

Subjects: Mutation*; Neurofibromatosis 1/Neurofibromatosis 1/Neurofibromatosis 1/*genetics ; Neurofibromin 1/Neurofibromin 1/Neurofibromin 1/*genetics

  • Source: Human mutation [Hum Mutat] 2004 Jun; Vol. 23 (6), pp. 629.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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Academic Journal

Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma.

  • Authors : Torrente I; IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.; Arturi F

Subjects: Chromatography, High Pressure Liquid*/Chromatography, High Pressure Liquid*/Chromatography, High Pressure Liquid*/methods ; Germ-Line Mutation*; Carcinoma, Medullary/Carcinoma, Medullary/Carcinoma, Medullary/*genetics

  • Source: Journal of endocrinological investigation [J Endocrinol Invest] 2004 Feb; Vol. 27 (2), pp. 111-6.Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates.

  • Authors : De Luca A; Dipartimento di Biopatologia e Diagnostica per Immagini, Sezione di Genetica, Università di Roma Tor Vergata, Via di Tor Vergata 135, 00133 Rome, Italy.; Rizzardi M

Subjects: Adaptation, Psychological* ; Polymorphism, Genetic* ; Temperament*

  • Source: Neurogenetics [Neurogenetics] 2001 Mar; Vol. 3 (2), pp. 79-82.Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print Cited Medium: Print ISSN: 1364-6745

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Academic Journal

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.

  • Authors : De Luca A; Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma Tor Vergata, Rome, Italy.; Torrente I

Subjects: Eye Proteins* ; Mutation*; Proteins/Proteins/Proteins/*genetics

  • Source: Mutation research [Mutat Res] 2001 Jan; Vol. 432 (3-4), pp. 79-82.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0400763 Publication Model: Print Cited Medium: Print ISSN: 0027-5107 (Print)

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Academic Journal

Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy.

  • Authors : Guidetti D; Neurological Department, Santa Maria Nuova Hospital, Reggio Emilia, Italy. ; Sabadini R

Subjects: Genetic Linkage* ; X Chromosome*; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*epidemiology

  • Source: European journal of epidemiology [Eur J Epidemiol] 2001; Vol. 17 (6), pp. 587-91.Publisher: Kluwer Academic Publishers Country of Publication: Netherlands NLM ID: 8508062 Publication Model: Print Cited Medium: Print ISSN:

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  • 1-10 of  11 results for ""Torrente I""