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Clinical Chemistry and Laboratory Medicine
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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.
Prenatal Diagnosis
|
April 24, 2015
Communicating Down syndrome risk according to maternal age: "1-in-X" effect on perceived risk
Stefania Pighin, Lucia Savadori, Elisa Barilli, et al.
Medical Decision Making : an International Journal of the Society for Medical Decision Making
|
October 27, 2012
Using comparison scenarios to improve prenatal risk communication
Stefania Pighin, Lucia Savadori, Elisa Barilli, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 3, 2008
Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation
Gian Luca Forni, Manuela Balocco, Laura Cremonesi, et al.
Clinical Chemistry
|
October 27, 2010
Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases
Silvia Galbiati, Angela Brisci, Faustina Lalatta, et al.
Medicina Clinica
|
August 12, 2006
[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")]
José Antonio García Erce, Teresa Cortés, Laura Cremonesi, et al.
Blood Cells, Molecules & Diseases
|
June 30, 2004
C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract
Sandra Bosio, Alessandro Campanella, Enrico Gramaglia, et al.
Page
of 7
Search research articles
Search
Showing results (11-20 of 65) with videos related to
Sort By:
Page
of 7
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.
Prenatal Diagnosis
|
April 24, 2015
Communicating Down syndrome risk according to maternal age: "1-in-X" effect on perceived risk
Stefania Pighin, Lucia Savadori, Elisa Barilli, et al.
Medical Decision Making : an International Journal of the Society for Medical Decision Making
|
October 27, 2012
Using comparison scenarios to improve prenatal risk communication
Stefania Pighin, Lucia Savadori, Elisa Barilli, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 3, 2008
Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation
Gian Luca Forni, Manuela Balocco, Laura Cremonesi, et al.
Clinical Chemistry
|
October 27, 2010
Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases
Silvia Galbiati, Angela Brisci, Faustina Lalatta, et al.
Medicina Clinica
|
August 12, 2006
[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")]
José Antonio García Erce, Teresa Cortés, Laura Cremonesi, et al.
Blood Cells, Molecules & Diseases
|
June 30, 2004
C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract
Sandra Bosio, Alessandro Campanella, Enrico Gramaglia, et al.
Page
of 7