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Academic Journal

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.

Subjects: Cell Cycle Proteins/Cell Cycle Proteins/Cell Cycle Proteins/*genetics ; Orofaciodigital Syndromes/Orofaciodigital Syndromes/Orofaciodigital Syndromes/*complications ; Orofaciodigital Syndromes/Orofaciodigital Syndromes/Orofaciodigital Syndromes/*genetics

  • Source: Medicine [Medicine (Baltimore)] 2020 Feb; Vol. 99 (8), pp. e19169.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Microbiome Analytics of the Gut Microbiota in Patients With Juvenile Idiopathic Arthritis: A Longitudinal Observational Cohort Study.

Subjects: Arthritis, Juvenile/Arthritis, Juvenile/Arthritis, Juvenile/*microbiology ; Dysbiosis/Dysbiosis/Dysbiosis/*epidemiology ; Gastrointestinal Microbiome/Gastrointestinal Microbiome/Gastrointestinal Microbiome/*genetics

  • Source: Arthritis & rheumatology (Hoboken, N.J.) [Arthritis Rheumatol] 2019 Jun; Vol. 71 (6), pp. 1000-1010. Date of Electronic Publication: 2019 Apr 29.Publisher: Wiley Country of Publication: United States NLM ID: 101623795 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Polymorphism of the IRGM Gene Might Predispose to Fistulizing Behavior in Crohn's Disease.

Subjects: GENETIC polymorphisms; CROHN'S disease; INFLAMMATORY bowel diseasesITALY

  • Source: American Journal of Gastroenterology (Springer Nature); Jan2009, Vol. 104 Issue 1, p110-116, 7p, 3 Charts

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Academic Journal

Reference ranges of HOMA-IR in normal-weight and obese young Caucasians.

  • Authors : Shashaj B; Research Unit for Multifactorial Diseases, Scientific Directorate, Bambino Gesù Children Hospital, Rome, Italy.; Luciano R

Subjects: Insulin Resistance*; Obesity/Obesity/Obesity/*metabolism; Adolescent

  • Source: Acta diabetologica [Acta Diabetol] 2016 Apr; Vol. 53 (2), pp. 251-60. Date of Electronic Publication: 2015 Jun 13.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9200299 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genome medicine: gene therapy for the millennium, 30 September-3 October 2001, Rome, Italy.

Subjects: GENE therapy; CONFERENCES & conventionsITALY; ROME (Italy)

  • Source: Gene Therapy; 6/1/2002, Vol. 9 Issue 11, p653, 5p

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Academic Journal

The policy of public health genomics in Italy.

Subjects: Health Policy*; Genomics/Genomics/Genomics/*legislation & jurisprudence ; Public Health/Public Health/Public Health/*legislation & jurisprudence

  • Source: Health policy (Amsterdam, Netherlands) [Health Policy] 2013 May; Vol. 110 (2-3), pp. 214-9. Date of Electronic Publication: 2013 Mar 05.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8409431 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

RDDR: a dysmorphology diagnostic network for newborns in central Italy.

Subjects: Community Networks* ; Diagnostic Techniques and Procedures*; Congenital Abnormalities/Congenital Abnormalities/Congenital Abnormalities/*diagnosis

  • Source: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the Publisher: Informa Healthcare Country of Publication: England NLM ID: 101136916 Publication Model: Print Cited Medium: Internet ISSN: 1476-4954

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Academic Journal

Infantile cortical hyperostosis and COL1A1 mutation in four generations.

  • Authors : Cerruti-Mainardi P; Paediatrics Department and Genetics Unit, S. Andrea Hospital, Corso M Abbiate, 21-13100 Vercelli, Italy. ; Venturi G

Subjects: Mutation*; Collagen Type I/Collagen Type I/Collagen Type I/*genetics ; Osteitis Deformans/Osteitis Deformans/Osteitis Deformans/*geneticsHyperostosis corticalis deformans juvenilis

  • Source: European journal of pediatrics [Eur J Pediatr] 2011 Nov; Vol. 170 (11), pp. 1385-90. Date of Electronic Publication: 2011 May 13.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

  • Authors : Louie CM; Howard Hughes Medical Institute, Department of Pediatrics, University of California, San Diego, La Jolla, USA.; Caridi G

Subjects: Photoreceptor Cells, Vertebrate/Photoreceptor Cells, Vertebrate/Photoreceptor Cells, Vertebrate/*pathology ; Proto-Oncogene Proteins/Proto-Oncogene Proteins/Proto-Oncogene Proteins/*metabolism ; Retinal Degeneration/Retinal Degeneration/Retinal Degeneration/*pathology

  • Source: Nature genetics [Nat Genet] 2010 Feb; Vol. 42 (2), pp. 175-80. Date of Electronic Publication: 2010 Jan 17.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  134 results for ""Dallapiccola, B.""