Results
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Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. [electronic resource] by
- Neřoldová, Magdaléna
- Stránecký, Viktor
- Hodaňová, Kateřina
- Hartmannová, Hana
- Piherová, Lenka
- Přistoupilová, Anna
- Mrázová, Lenka
- Vrablík, Michal
- Adámková, Věra
- Hubáček, Jaroslav A
- Jirsa, Milan
- Kmoch, Stanislav
Producer: 20170809
In:
Pharmacogenomics vol. 17
Availability: No items available.
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3.
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LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected? [electronic resource] by
- Majer, Filip
- Piherova, Lenka
- Reboun, Martin
- Stara, Veronika
- Pelak, Ondrej
- Norambuena, Patricia
- Stranecky, Viktor
- Krebsova, Alice
- Vlaskova, Hana
- Dvorakova, Lenka
- Kmoch, Stanislav
- Kalina, Tomas
- Kubanek, Milos
- Sikora, Jakub
Producer: 20190925
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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4.
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Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene. [electronic resource] by
- Hartmannova, Hana
- Kubanek, Milos
- Sramko, Marek
- Piherova, Lenka
- Noskova, Lenka
- Hodanova, Katerina
- Stranecky, Viktor
- Pristoupilova, Anna
- Sovova, Jana
- Marek, Tomas
- Maluskova, Jana
- Ridzon, Petr
- Kautzner, Josef
- Hulkova, Helena
- Kmoch, Stanislav
Producer: 20140813
In:
Circulation. Cardiovascular genetics vol. 6
Availability: No items available.
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5.
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Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. [electronic resource] by
- Majer, Filip
- Kousal, Bohdan
- Dusek, Petr
- Piherova, Lenka
- Reboun, Martin
- Mihalova, Romana
- Gurka, Jiri
- Krebsova, Alice
- Vlaskova, Hana
- Dvorakova, Lenka
- Krihova, Jana
- Liskova, Petra
- Kmoch, Stanislav
- Kalina, Tomas
- Kubanek, Milos
- Sikora, Jakub
Producer: 20201228
In:
American journal of medical genetics. Part A vol. 182
Availability: No items available.
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6.
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Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. [electronic resource] by
- Cízková, Alena
- Stránecký, Viktor
- Ivánek, Robert
- Hartmannová, Hana
- Nosková, Lenka
- Piherová, Lenka
- Tesarová, Markéta
- Hansíková, Hana
- Honzík, Tomás
- Zeman, Jirí
- Divina, Petr
- Potocká, Andrea
- Paul, Jan
- Sperl, Wolfgang
- Mayr, Johannes A
- Seneca, Sara
- Houstĕk, Josef
- Kmoch, Stanislav
Producer: 20080403
In:
BMC genomics vol. 9
Availability: No items available.
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7.
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Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction. [electronic resource] by
- Kubánek, Miloš
- Schimerová, Tereza
- Piherová, Lenka
- Brodehl, Andreas
- Krebsová, Alice
- Ratnavadivel, Sandra
- Stanasiuk, Caroline
- Hansíková, Hana
- Zeman, Jiří
- Paleček, Tomáš
- Houštěk, Josef
- Drahota, Zdeněk
- Nůsková, Hana
- Mikešová, Jana
- Zámečník, Josef
- Macek, Milan
- Ridzoň, Petr
- Malusková, Jana
- Stránecký, Viktor
- Melenovský, Vojtěch
- Milting, Hendrik
- Kmoch, Stanislav
Publication details: Journal of clinical medicine Mar 2020
In:
Journal of clinical medicine vol. 9
Availability: No items available.
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8.
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Mutations in ANTXR1 cause GAPO syndrome. [electronic resource] by
- Stránecký, Viktor
- Hoischen, Alexander
- Hartmannová, Hana
- Zaki, Maha S
- Chaudhary, Amit
- Zudaire, Enrique
- Nosková, Lenka
- Barešová, Veronika
- Přistoupilová, Anna
- Hodaňová, Kateřina
- Sovová, Jana
- Hůlková, Helena
- Piherová, Lenka
- Hehir-Kwa, Jayne Y
- de Silva, Deepthi
- Senanayake, Manouri P
- Farrag, Sameh
- Zeman, Jiří
- Martásek, Pavel
- Baxová, Alice
- Afifi, Hanan H
- St Croix, Brad
- Brunner, Han G
- Temtamy, Samia
- Kmoch, Stanislav
Producer: 20130705
In:
American journal of human genetics vol. 92
Availability: No items available.
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9.
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Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. [electronic resource] by
- Hartmannová, Hana
- Piherová, Lenka
- Tauchmannová, Kateřina
- Kidd, Kendrah
- Acott, Philip D
- Crocker, John F S
- Oussedik, Youcef
- Mallet, Marcel
- Hodaňová, Kateřina
- Stránecký, Viktor
- Přistoupilová, Anna
- Barešová, Veronika
- Jedličková, Ivana
- Živná, Martina
- Sovová, Jana
- Hůlková, Helena
- Robins, Vicki
- Vrbacký, Marek
- Pecina, Petr
- Kaplanová, Vilma
- Houštěk, Josef
- Mráček, Tomáš
- Thibeault, Yves
- Bleyer, Anthony J
- Kmoch, Stanislav
Producer: 20170720
In:
Human molecular genetics vol. 25
Availability: No items available.
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