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British Journal of Haematology
|
February 1, 2006
Thalassaemia-like carriers not linked to the beta-globin gene cluster
Valeria Faà, Alessandra Meloni, Loredana Moi, et al.
Prenatal Diagnosis
|
October 19, 2005
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination
Antonio Percesepe, Maurizio Ferrari, Domenico Coviello, et al.
Clinical Chemistry
|
January 8, 2004
Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection
Barbara Foglieni, Laura Cremonesi, Maurizio Travi, et al.
Pediatric Research
|
November 25, 2005
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome
Alberto Bettinelli, Nicolò Borsa, Marie-Louise Syrén, et al.
Haematologica
|
March 11, 2008
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia
Silvia Galbiati, Barbara Foglieni, Maurizio Travi, et al.
The Laryngoscope
|
May 3, 2007
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness
Paola Primignani, Luca Trotta, Pierangela Castorina, et al.
Annals of the New York Academy of Sciences
|
November 17, 2006
Different approaches for noninvasive prenatal diagnosis of genetic diseases based on PNA-mediated enriched PCR
Silvia Galbiati, Gabriella Restagno, Barbara Foglieni, et al.
Genetic Testing and Molecular Biomarkers
|
April 18, 2009
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss
Paola Primignani, Luca Trotta, Pierangela Castorina, et al.
Parkinsonism & Related Disorders
|
June 4, 2008
Parkin analysis in early onset Parkinson's disease
Francesca Sironi, Paola Primignani, Michela Zini, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
British Journal of Haematology
|
February 1, 2006
Thalassaemia-like carriers not linked to the beta-globin gene cluster
Valeria Faà, Alessandra Meloni, Loredana Moi, et al.
Prenatal Diagnosis
|
October 19, 2005
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination
Antonio Percesepe, Maurizio Ferrari, Domenico Coviello, et al.
Clinical Chemistry
|
January 8, 2004
Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection
Barbara Foglieni, Laura Cremonesi, Maurizio Travi, et al.
Pediatric Research
|
November 25, 2005
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome
Alberto Bettinelli, Nicolò Borsa, Marie-Louise Syrén, et al.
Haematologica
|
March 11, 2008
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia
Silvia Galbiati, Barbara Foglieni, Maurizio Travi, et al.
The Laryngoscope
|
May 3, 2007
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness
Paola Primignani, Luca Trotta, Pierangela Castorina, et al.
Annals of the New York Academy of Sciences
|
November 17, 2006
Different approaches for noninvasive prenatal diagnosis of genetic diseases based on PNA-mediated enriched PCR
Silvia Galbiati, Gabriella Restagno, Barbara Foglieni, et al.
Genetic Testing and Molecular Biomarkers
|
April 18, 2009
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss
Paola Primignani, Luca Trotta, Pierangela Castorina, et al.
Parkinsonism & Related Disorders
|
June 4, 2008
Parkin analysis in early onset Parkinson's disease
Francesca Sironi, Paola Primignani, Michela Zini, et al.
Page
of 1