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Results of search for 'au:"Seemanová, E"', page 5 of 7
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Authors
Bartsch, O
Benesová, D
Dolezal, A
Dreyer, M
Goetz, P
Hoza, J
Hyánek, J
Kapras, J
Kress, W
Lesný, I
Losan, F
Macek, M
Nevsímalová, S
Passarge, E
Rüdiger, H W
Salichová, J
Schmidt, A
Seemanova, E
Seemanová, E
Sperling, K
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Topics
Abnormalities, Multiple
Adolescent
Adult
Child
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Female
Humans
Infant
Infant, Newborn
Intellectual Disability
Male
Mutation
Pedigree
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Prenatal Diagnosis
Syndrome
diagnosis
genetics
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Czech
English
g d
German
Your search returned 133 results.
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81.
[Crying cat syndrome].
[electronic resource]
by
Goetz, P
Malý, M
Seemanová, E
Salichová, J
Macek, M
Sedlácková, E
Producer:
19721004
In:
Ceskoslovenska pediatrie
vol. 27
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82.
Carrier detection of the fragile X syndrome using flanking loci DXS98, DXS105, and DXS304.
[electronic resource]
by
Dahl, N
Malmgren, H
Pettersson, U
Holmgren, G
Seemanová, E
Gustavson, K H
Producer:
19910521
In:
American journal of medical genetics
vol. 38
Online resources:
Available from publisher's website
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83.
[Macro-orchism. A significant symptom in the detection of the fragile X chromosome syndrome].
[electronic resource]
by
Seemanová, E
Schmidt, A
Popelová, K
Passarge, E
Lesný, I
Svobodová, M
Maríková, T
Producer:
19830527
In:
Casopis lekaru ceskych
vol. 122
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84.
[DNA diagnosis of the fragile X chromosome syndrome--FRAXA using PCR].
[electronic resource]
by
Bóday, A
Mat'oska, V
Konrádová, V
Havlovicová, M
Musová, Z
Krejcová, S
Seemanová, E
Producer:
19980409
In:
Casopis lekaru ceskych
vol. 137
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85.
[The fragile X chromosome syndrome].
[electronic resource]
by
Seemanová, E
Schmidt, A
Subrt, I
Macek, M
Goetz, P
Maríková, T
Sulcová, V
Producer:
19880311
In:
Ceskoslovenska pediatrie
vol. 42
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86.
[Hyperphenylalaninemia].
[electronic resource]
by
Hyánek, J
Seemanová, E
Sádlová, I
Mrastíková, H
Wünschová, N
Hoza, J
Zelingerová, J
Producer:
19710617
In:
Casopis lekaru ceskych
vol. 110
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87.
[A method for detection of germinal mutations in the p53 tumor suppressor gene].
[electronic resource]
by
Sedlácek, Z
Kríz, V
Seemanová, E
Vlcek, C
Maríková, T
Mares, J
Goetz, P
Producer:
19970124
In:
Casopis lekaru ceskych
vol. 135
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88.
Ultraviolet-induced chromosomal instability in cultured fibroblasts of heterozygote carriers for xeroderma pigmentosum.
[electronic resource]
by
Bielfeld, V
Weichenthal, M
Roser, M
Breitbart, E
Berger, J
Seemanova, E
Rüdiger, H W
Producer:
19900207
In:
Cancer genetics and cytogenetics
vol. 43
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89.
Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?
[electronic resource]
by
Held, K R
Kerber, S
Kaminsky, E
Singh, S
Goetz, P
Seemanova, E
Goedde, H W
Producer:
19920304
In:
Human genetics
vol. 88
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90.
[Successful prenatal diagnosis of the fragile X chromosome without the use of folic acid antagonists].
[electronic resource]
by
Macek, M
Nedomová, V
Bavorová, H
Loucková, M
Chudoba, D
Seemanová, E
Schmidtová, A
Passarge, E
Producer:
19840107
In:
Ceskoslovenska pediatrie
vol. 38
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91.
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.
[electronic resource]
by
Bartsch, O
Locher, K
Meinecke, P
Kress, W
Seemanová, E
Wagner, A
Ostermann, K
Rödel, G
Producer:
20020905
In:
Journal of medical genetics
vol. 39
Online resources:
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92.
First-trimester prenatal diagnosis of the Nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant DNA synthesis.
[electronic resource]
by
Jaspers, N G
van der Kraan, M
Linssen, P C
Maçek, M
Seemanová, E
Kleijer, W J
Producer:
19910228
In:
Prenatal diagnosis
vol. 10
Online resources:
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93.
Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype.
[electronic resource]
by
Ahlbom, B E
Goetz, P
Korenberg, J R
Pettersson, U
Seemanova, E
Wadelius, C
Zech, L
Annerén, G
Producer:
19970320
In:
American journal of medical genetics
vol. 63
Online resources:
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94.
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.
[electronic resource]
by
Seemanová, E
Sperling, K
Neitzel, H
Varon, R
Hadac, J
Butova, O
Schröck, E
Seeman, P
Digweed, M
Producer:
20060809
In:
Journal of medical genetics
vol. 43
Online resources:
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95.
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.
[electronic resource]
by
Stumm, M
Gatti, R A
Reis, A
Udar, N
Chrzanowska, K
Seemanova, E
Sperling, K
Wegner, R D
Producer:
19951103
In:
American journal of human genetics
vol. 57
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96.
Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.
[electronic resource]
by
Sedlacek, Z
Kodet, R
Kriz, V
Seemanova, E
Vodvarka, P
Wilgenbus, P
Mares, J
Poustka, A
Goetz, P
Producer:
19980511
In:
British journal of cancer
vol. 77
Online resources:
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97.
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.
[electronic resource]
by
Seeman, P
Malíková, M
Rasková, D
Bendová, O
Groh, D
Kubálková, M
Sakmaryová, I
Seemanová, E
Kabelka, Z
Producer:
20050224
In:
Clinical genetics
vol. 66
Online resources:
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98.
Allelic heterogeneity of alkaptonuria in Central Europe.
[electronic resource]
by
Müller, C R
Fregin, A
Srsen, S
Srsnova, K
Halliger-Keller, B
Felbor, U
Seemanova, E
Kress, W
Producer:
19991101
In:
European journal of human genetics : EJHG
vol. 7
Online resources:
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99.
Further delineation of the Nijmegen breakage syndrome.
[electronic resource]
by
Taalman, R D
Hustinx, T W
Weemaes, C M
Seemanová, E
Schmidt, A
Passarge, E
Scheres, J M
Producer:
19890630
In:
American journal of medical genetics
vol. 32
Online resources:
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100.
[Homocystinuria].
[electronic resource]
by
Hyánek, J
Kavka, J
Seemanová, E
Laufbergerová, J
Dvorak, J
Huslarová, A
Hermanská, Z
Kopejtková, H
Hádek, J
Producer:
19721004
In:
Ceskoslovenska pediatrie
vol. 27
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