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281.
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[Cytogenetics of human neoplasms in Czechoslovakia up to 1977 (author's transl)]. [electronic resource] by
- Vrba, M
- Blasko, M
- Goetz, P
- Chrz, R
- Izakovic, V
- Kovarík, J
- Kuliffay, P
- Losan, F
- Michalová, K
- Macek, M
- Musilová, J
- Petráková, A
- Popovic, M
- Slot, E
- Svec, J
- Svejda, J
- Thurzo, V
- Zajac, V
- Zizka, J
Producer: 19800215
In:
Casopis lekaru ceskych vol. 118
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282.
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[Frequency view on genome changes testing]. [electronic resource] by
- Brdicka, R
- Beránek, M
- Cimburová, M
- Dvorácková, J
- Dvoráková, D
- Hájková, J
- Haskovec, C
- Kebrdlová, V
- Karas, M
- Kratochvílová, A
- Losan, F
- Macek, M
- Musil, F
- Putzová, M
- Rozmanová, S
- Riedlová, P
- Safrová, M
- Scheinost, O
- Stolba, P
- Trka, J
- Vanecek, T
- Vrtel, R
Producer: 20060411
In:
Casopis lekaru ceskych vol. 145
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283.
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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus. [electronic resource] by
- Petrova, N V
- Kashirskaya, N Y
- Saydaeva, D K
- Polyakov, A V
- Adyan, T A
- Simonova, O I
- Gorinova, Y V
- Kondratyeva, E I
- Sherman, V D
- Novoselova, O G
- Vasilyeva, T A
- Marakhonov, A V
- Macek, M
- Ginter, E K
- Zinchenko, R A
Producer: 20190820
In:
BMC medical genetics vol. 20
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284.
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Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases. [electronic resource] by
- Verlaan, M
- Drenth, J P H
- Truninger, K
- Koudova, M
- Schulz, H-U
- Bargetzi, M
- Künzli, B
- Friess, H
- Cerny, M
- Kage, A
- Landt, O
- te Morsche, R H M
- Rosendahl, J
- Luck, W
- Nickel, R
- Halangk, J
- Becker, M
- Macek, M
- Jansen, J B M J
- Witt, H
Producer: 20060724
In:
Journal of medical genetics vol. 42
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285.
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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. [electronic resource] by
- Zielenski, J
- Corey, M
- Rozmahel, R
- Markiewicz, D
- Aznarez, I
- Casals, T
- Larriba, S
- Mercier, B
- Cutting, G R
- Krebsova, A
- Macek, M
- Langfelder-Schwind, E
- Marshall, B C
- DeCelie-Germana, J
- Claustres, M
- Palacio, A
- Bal, J
- Nowakowska, A
- Ferec, C
- Estivill, X
- Durie, P
- Tsui, L C
Producer: 19990629
In:
Nature genetics vol. 22
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286.
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Recent developments in genetics and medically-assisted reproduction: from research to clinical applications [electronic resource] by
- Harper, J C
- Aittomäki, K
- Borry, P
- Cornel, M C
- de Wert, G
- Dondorp, W
- Geraedts, J
- Gianaroli, L
- Ketterson, K
- Liebaers, I
- Lundin, K
- Mertes, H
- Morris, M
- Pennings, G
- Sermon, K
- Spits, C
- Soini, S
- van Montfoort, A P A
- Veiga, A
- Vermeesch, J R
- Viville, S
- Macek, M
Publication details: Human reproduction open 2017
In:
Human reproduction open vol. 2017
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287.
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Recent developments in genetics and medically assisted reproduction: from research to clinical applications. [electronic resource] by
- Harper, J C
- Aittomäki, K
- Borry, P
- Cornel, M C
- de Wert, G
- Dondorp, W
- Geraedts, J
- Gianaroli, L
- Ketterson, K
- Liebaers, I
- Lundin, K
- Mertes, H
- Morris, M
- Pennings, G
- Sermon, K
- Spits, C
- Soini, S
- van Montfoort, A P A
- Veiga, A
- Vermeesch, J R
- Viville, S
- Macek, M
Producer: 20181211
In:
European journal of human genetics : EJHG vol. 26
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288.
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SCA2 trinucleotide expansion in German SCA patients. [electronic resource] by
- Riess, O
- Laccone, F A
- Gispert, S
- Schöls, L
- Zühlke, C
- Vieira-Saecker, A M
- Herlt, S
- Wessel, K
- Epplen, J T
- Weber, B H
- Kreuz, F
- Chahrokh-Zadeh, S
- Meindl, A
- Lunkes, A
- Aguiar, J
- Macek, M
- Krebsová, A
- Macek, M
- Bürk, K
- Tinschert, S
- Schreyer, I
- Pulst, S M
- Auburger, G
Producer: 20000411
In:
Neurogenetics vol. 1
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289.
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[Medical genetics in reproductive medicine]. [electronic resource] by
- Macek, M
- Vilímová, S
- Potuzníková, P
- Yurov, Y
- Vorsanova, S
- Diblík, J
- Krebsová, A
- Machatková, M
- Koudová, M
- Alánová, R
- Matĕjcková, M
- Hladíková, E
- Broucková, M
- Hüttelová, R
- Vincenciová, R
- Paulasová, P
- Brandjeská, M
- Uhrová, E
- Kratĕnová, A
- Smetanová, I
- Novotná, D
- Chudoba, D
- Kulovaný, E
- Krutílková, V
- Hromadníková, I
- Mardesic, T
- Macek, M
Producer: 20020404
In:
Casopis lekaru ceskych vol. 141
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290.
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Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. [electronic resource] by
- Dörk, T
- Macek, M
- Mekus, F
- Tümmler, B
- Tzountzouris, J
- Casals, T
- Krebsová, A
- Koudová, M
- Sakmaryová, I
- Macek, M
- Vávrová, V
- Zemková, D
- Ginter, E
- Petrova, N V
- Ivaschenko, T
- Baranov, V
- Witt, M
- Pogorzelski, A
- Bal, J
- Zékanowsky, C
- Wagner, K
- Stuhrmann, M
- Bauer, I
- Seydewitz, H H
- Neumann, T
- Jakubiczka, S
Producer: 20000523
In:
Human genetics vol. 106
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291.
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Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. [electronic resource] by
- Karadima, G
- Bugge, M
- Nicolaidis, P
- Vassilopoulos, D
- Avramopoulos, D
- Grigoriadou, M
- Albrecht, B
- Passarge, E
- Annerén, G
- Blennow, E
- Clausen, N
- Galla-Voumvouraki, A
- Tsezou, A
- Kitsiou-Tzeli, S
- Hahnemann, J M
- Hertz, J M
- Houge, G
- Kuklík, M
- Macek, M
- Lacombe, D
- Miller, K
- Moncla, A
- López Pajares, I
- Patsalis, P C
- Petersen, M B
Producer: 19990107
In:
European journal of human genetics : EJHG vol. 6
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292.
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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. [electronic resource] by
- Castellani, C
- Cuppens, H
- Macek, M
- Cassiman, J J
- Kerem, E
- Durie, P
- Tullis, E
- Assael, B M
- Bombieri, C
- Brown, A
- Casals, T
- Claustres, M
- Cutting, G R
- Dequeker, E
- Dodge, J
- Doull, I
- Farrell, P
- Ferec, C
- Girodon, E
- Johannesson, M
- Kerem, B
- Knowles, M
- Munck, A
- Pignatti, P F
- Radojkovic, D
- Rizzotti, P
- Schwarz, M
- Stuhrmann, M
- Tzetis, M
- Zielenski, J
- Elborn, J S
Producer: 20081017
In:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 7
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293.
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Recommendations for the classification of diseases as CFTR-related disorders. [electronic resource] by
- Bombieri, C
- Claustres, M
- De Boeck, K
- Derichs, N
- Dodge, J
- Girodon, E
- Sermet, I
- Schwarz, M
- Tzetis, M
- Wilschanski, M
- Bareil, C
- Bilton, D
- Castellani, C
- Cuppens, H
- Cutting, G R
- Drevínek, P
- Farrell, P
- Elborn, J S
- Jarvi, K
- Kerem, B
- Kerem, E
- Knowles, M
- Macek, M
- Munck, A
- Radojkovic, D
- Seia, M
- Sheppard, D N
- Southern, K W
- Stuhrmann, M
- Tullis, E
- Zielenski, J
- Pignatti, P F
- Ferec, C
Producer: 20110902
In:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 10 Suppl 2
Availability: No items available.
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