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Human Mutation
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April 17, 1999
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online
G R Villani, N Balzano, P Di Natale
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|
January 1, 1996
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]
N Balzano, G R Villani, G Coppa, et al.
Human Mutation
|
April 29, 1998
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations
P Di Natale, N Balzano, S Esposito, et al.
Biochimica Et Biophysica Acta
|
June 6, 2000
Expression of five iduronate-2-sulfatase site-directed mutations
G R Villani, A Daniele, N Balzano, et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|
January 1, 1996
[Mutation analysis in Hunter patients]
G R Villani, N Balzano, M Grosso, et al.
Human Mutation
|
April 24, 1999
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online
N Balzano, G R Villani, M Grosso, et al.
Biochimica Et Biophysica Acta
|
February 26, 1999
Maroteaux-lamy syndrome: five novel mutations and their structural localization
G R Villani, N Balzano, D Vitale, et al.
Human Mutation
|
January 1, 1997
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients
G R Villani, N Balzano, M Grosso, et al.
Prenatal Diagnosis
|
October 16, 1999
Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele
P Di Natale, G R Villani, S Esposito, et al.
Biochemistry and Molecular Biology International
|
May 1, 1995
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease
M Grosso, N Balzano, E Rippa, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Human Mutation
|
April 17, 1999
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online
G R Villani, N Balzano, P Di Natale
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|
January 1, 1996
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]
N Balzano, G R Villani, G Coppa, et al.
Human Mutation
|
April 29, 1998
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations
P Di Natale, N Balzano, S Esposito, et al.
Biochimica Et Biophysica Acta
|
June 6, 2000
Expression of five iduronate-2-sulfatase site-directed mutations
G R Villani, A Daniele, N Balzano, et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|
January 1, 1996
[Mutation analysis in Hunter patients]
G R Villani, N Balzano, M Grosso, et al.
Human Mutation
|
April 24, 1999
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online
N Balzano, G R Villani, M Grosso, et al.
Biochimica Et Biophysica Acta
|
February 26, 1999
Maroteaux-lamy syndrome: five novel mutations and their structural localization
G R Villani, N Balzano, D Vitale, et al.
Human Mutation
|
January 1, 1997
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients
G R Villani, N Balzano, M Grosso, et al.
Prenatal Diagnosis
|
October 16, 1999
Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele
P Di Natale, G R Villani, S Esposito, et al.
Biochemistry and Molecular Biology International
|
May 1, 1995
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease
M Grosso, N Balzano, E Rippa, et al.
Page
of 2