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Human Genetics
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June 1, 1988
High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms
F D Bricarelli, M Pierluigi, L Perroni, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 1, 1988
Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21
N Sacchi, J F Gusella, L Perroni, et al.
Journal of Medical Genetics
|
February 1, 1989
Familial supravalvular aortic stenosis: a genetic study
F Chiarella, F D Bricarelli, G Lupi, et al.
Giornale Italiano Di Cardiologia
|
June 1, 1989
[Supravalvular aortic stenosis: clinical and genetic study of a family group]
F Chiarella, G Lupi, P Bellotti, et al.
Acta Geneticae Medicae Et Gemellologiae
|
January 1, 1978
Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients
B Dallapiccola, F D Bricarelli, A R Quartino, et al.
Epilepsia
|
March 7, 2002
Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance
F A de Falco, L Majello, R Santangelo, et al.
European Journal of Human Genetics : EJHG
|
April 26, 2000
FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother
C Lo Nigro, F Faravelli, S Cavani, et al.
Journal of Medical Genetics
|
February 1, 1986
Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells
R A Eady, D B Gunner, L D Carbone, et al.
Journal of Medical Genetics
|
February 24, 2001
The first three mosaic cri du chat syndrome patients with two rearranged cell lines
C Perfumo, P Cerruti Mainardi, A Calí, et al.
American Journal of Human Genetics
|
March 31, 2000
Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13
F Zara, E Gennaro, M Stabile, et al.
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of 4
Search research articles
Search
Showing results (11-20 of 34) with videos related to
Sort By:
Page
of 4
Human Genetics
|
June 1, 1988
High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms
F D Bricarelli, M Pierluigi, L Perroni, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 1, 1988
Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21
N Sacchi, J F Gusella, L Perroni, et al.
Journal of Medical Genetics
|
February 1, 1989
Familial supravalvular aortic stenosis: a genetic study
F Chiarella, F D Bricarelli, G Lupi, et al.
Giornale Italiano Di Cardiologia
|
June 1, 1989
[Supravalvular aortic stenosis: clinical and genetic study of a family group]
F Chiarella, G Lupi, P Bellotti, et al.
Acta Geneticae Medicae Et Gemellologiae
|
January 1, 1978
Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients
B Dallapiccola, F D Bricarelli, A R Quartino, et al.
Epilepsia
|
March 7, 2002
Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance
F A de Falco, L Majello, R Santangelo, et al.
European Journal of Human Genetics : EJHG
|
April 26, 2000
FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother
C Lo Nigro, F Faravelli, S Cavani, et al.
Journal of Medical Genetics
|
February 1, 1986
Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells
R A Eady, D B Gunner, L D Carbone, et al.
Journal of Medical Genetics
|
February 24, 2001
The first three mosaic cri du chat syndrome patients with two rearranged cell lines
C Perfumo, P Cerruti Mainardi, A Calí, et al.
American Journal of Human Genetics
|
March 31, 2000
Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13
F Zara, E Gennaro, M Stabile, et al.
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of 4