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American Journal of Medical Genetics. Part A
|
August 6, 2003
Truncus arteriosus and duplication 8q
Maria Cristina Digilio, Adriano Angioni, Aldo Giannotti, et al.
Biological Research
|
February 9, 2010
DNA damage and related modifier genes in Italian cystic fibrosis patients
Silvia Sterpone, Tommaso Cornetta, Adriano Angioni, et al.
Experimental Dermatology
|
April 20, 2018
X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, et al.
Orphanet Journal of Rare Diseases
|
January 15, 2016
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis
Andrea Diociaiuti, May El Hachem, Elisa Pisaneschi, et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale
|
August 10, 2010
Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation
Anna Cristina Tomaiuolo, Federico Alghisi, Stefano Petrocchi, et al.
Pancreas
|
December 25, 2008
Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability
Federico Alghisi, Sergio Bella, Vincenzina Lucidi, et al.
Acta Dermato-Venereologica
|
March 6, 2019
Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, et al.
Pancreas
|
April 19, 2011
The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians
Vincenzina Lucidi, Federico Alghisi, Luigi Dall'Oglio, et al.
Pediatric Transplantation
|
October 23, 2002
Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease)
Maurizio Caniglia, Ippolita Rana, Rita Maria Pinto, et al.
American Journal of Medical Genetics. Part A
|
January 26, 2005
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2
M Cristina Digilio, Bruno Marino, Rossella Capolino, et al.
Page
of 5
Search research articles
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Showing results (1-10 of 42) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
August 6, 2003
Truncus arteriosus and duplication 8q
Maria Cristina Digilio, Adriano Angioni, Aldo Giannotti, et al.
Biological Research
|
February 9, 2010
DNA damage and related modifier genes in Italian cystic fibrosis patients
Silvia Sterpone, Tommaso Cornetta, Adriano Angioni, et al.
Experimental Dermatology
|
April 20, 2018
X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, et al.
Orphanet Journal of Rare Diseases
|
January 15, 2016
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis
Andrea Diociaiuti, May El Hachem, Elisa Pisaneschi, et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale
|
August 10, 2010
Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation
Anna Cristina Tomaiuolo, Federico Alghisi, Stefano Petrocchi, et al.
Pancreas
|
December 25, 2008
Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability
Federico Alghisi, Sergio Bella, Vincenzina Lucidi, et al.
Acta Dermato-Venereologica
|
March 6, 2019
Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, et al.
Pancreas
|
April 19, 2011
The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians
Vincenzina Lucidi, Federico Alghisi, Luigi Dall'Oglio, et al.
Pediatric Transplantation
|
October 23, 2002
Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease)
Maurizio Caniglia, Ippolita Rana, Rita Maria Pinto, et al.
American Journal of Medical Genetics. Part A
|
January 26, 2005
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2
M Cristina Digilio, Bruno Marino, Rossella Capolino, et al.
Page
of 5