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Clinical Genetics
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June 6, 2003
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism
S Palmeri, F Mari, I Meloni, et al.
Genomics
|
April 16, 1998
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation
M Piccini, F Vitelli, M Bruttini, et al.
Human Molecular Genetics
|
January 1, 1994
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome
A Renieri, L Galli, M De Marchi, et al.
Human Mutation
|
January 1, 1994
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5
B Peissel, S Rossetti, A Renieri, et al.
European Journal of Medical Genetics
|
March 28, 2009
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
M Pollazzon, S Grosso, F T Papa, et al.
Clinical Genetics
|
September 13, 2001
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
A Malandrini, F Mari, S Palmeri, et al.
Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association
|
December 21, 2018
Cadmium, lead and mercury in muscle tissue of gilthead seabream and seabass: Risk evaluation for consumers
Elisavet A Renieri, Irina V Safenkova, Athanasios Κ Alegakis, et al.
Brain & Development
|
June 20, 2008
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
A Renieri, F Mari, M A Mencarelli, et al.
Journal of the American Society of Nephrology : JASN
|
June 11, 1998
Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations
G Mazzucco, P Barsotti, A O Muda, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2013
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?
M Mucciolo, P Magini, A Marozza, et al.
Page
of 11
Search research articles
Search
Showing results (51-60 of 106) with videos related to
Sort By:
Page
of 11
Clinical Genetics
|
June 6, 2003
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism
S Palmeri, F Mari, I Meloni, et al.
Genomics
|
April 16, 1998
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation
M Piccini, F Vitelli, M Bruttini, et al.
Human Molecular Genetics
|
January 1, 1994
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome
A Renieri, L Galli, M De Marchi, et al.
Human Mutation
|
January 1, 1994
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5
B Peissel, S Rossetti, A Renieri, et al.
European Journal of Medical Genetics
|
March 28, 2009
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
M Pollazzon, S Grosso, F T Papa, et al.
Clinical Genetics
|
September 13, 2001
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
A Malandrini, F Mari, S Palmeri, et al.
Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association
|
December 21, 2018
Cadmium, lead and mercury in muscle tissue of gilthead seabream and seabass: Risk evaluation for consumers
Elisavet A Renieri, Irina V Safenkova, Athanasios Κ Alegakis, et al.
Brain & Development
|
June 20, 2008
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
A Renieri, F Mari, M A Mencarelli, et al.
Journal of the American Society of Nephrology : JASN
|
June 11, 1998
Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations
G Mazzucco, P Barsotti, A O Muda, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2013
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?
M Mucciolo, P Magini, A Marozza, et al.
Page
of 11