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EJIFCC
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September 30, 2016
2. Post-Natal Molecular Diagnosis of Inherited Diseases
Maurizio Ferrari, Laura Cremonesi, Stefania Stenirri
Clinical Chemistry and Laboratory Medicine
|
May 16, 2003
Molecular diagnostics by microelectronic microchips
Maurizio Ferrari, Stefania Stenirri, Pierangelo Bonini, et al.
Methods in Molecular Medicine
|
September 15, 2005
Single-nucleotide polymorphism and mutation identification by the nanogen microelectronic chip technology
Maurizio Ferrari, Laura Cremonesi, Pierangelo Bonini, et al.
Expert Review of Molecular Diagnostics
|
April 19, 2005
Molecular diagnostics by microelectronic microchips
Maurizio Ferrari, Laura Cremonesi, Pierangelo Bonini, et al.
Clinical Chemistry and Laboratory Medicine
|
July 26, 2008
Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?
Stefania Stenirri, Georgia Alaimo, Maria Pia Manitto, et al.
Clinical Chemistry and Laboratory Medicine
|
October 30, 2013
Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report
Silvia Galbiati, Stefania Stenirri, Luca Sbaiz, et al.
Clinical Chemistry and Laboratory Medicine
|
April 8, 2014
Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR
Silvia Galbiati, Stefania Stenirri, Luca Sbaiz, et al.
Human Mutation
|
June 20, 2003
Denaturing HPLC analysis of DNA deletions and insertions
Laura Cremonesi, Stefania Stenirri, Isabella Fermo, et al.
Ophthalmic Research
|
May 16, 2012
Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy
Maria Lucia Cascavilla, Giuseppe Querques, Stefania Stenirri, et al.
Clinical Chemistry and Laboratory Medicine
|
May 10, 2006
De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy
Stefania Stenirri, Stefania Battistella, Isabella Fermo, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
EJIFCC
|
September 30, 2016
2. Post-Natal Molecular Diagnosis of Inherited Diseases
Maurizio Ferrari, Laura Cremonesi, Stefania Stenirri
Clinical Chemistry and Laboratory Medicine
|
May 16, 2003
Molecular diagnostics by microelectronic microchips
Maurizio Ferrari, Stefania Stenirri, Pierangelo Bonini, et al.
Methods in Molecular Medicine
|
September 15, 2005
Single-nucleotide polymorphism and mutation identification by the nanogen microelectronic chip technology
Maurizio Ferrari, Laura Cremonesi, Pierangelo Bonini, et al.
Expert Review of Molecular Diagnostics
|
April 19, 2005
Molecular diagnostics by microelectronic microchips
Maurizio Ferrari, Laura Cremonesi, Pierangelo Bonini, et al.
Clinical Chemistry and Laboratory Medicine
|
July 26, 2008
Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?
Stefania Stenirri, Georgia Alaimo, Maria Pia Manitto, et al.
Clinical Chemistry and Laboratory Medicine
|
October 30, 2013
Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report
Silvia Galbiati, Stefania Stenirri, Luca Sbaiz, et al.
Clinical Chemistry and Laboratory Medicine
|
April 8, 2014
Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR
Silvia Galbiati, Stefania Stenirri, Luca Sbaiz, et al.
Human Mutation
|
June 20, 2003
Denaturing HPLC analysis of DNA deletions and insertions
Laura Cremonesi, Stefania Stenirri, Isabella Fermo, et al.
Ophthalmic Research
|
May 16, 2012
Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy
Maria Lucia Cascavilla, Giuseppe Querques, Stefania Stenirri, et al.
Clinical Chemistry and Laboratory Medicine
|
May 10, 2006
De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy
Stefania Stenirri, Stefania Battistella, Isabella Fermo, et al.
Page
of 2