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Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2. [electronic resource] by
- Sivák, Štefan
- Kurča, Egon
- Krajčiová, Adriána
- Hikkelová, Martina
- Šimko, Juraj
- Mišovicová, Nadežda
- Kantorová, Ema
- Turčanová-Koprušáková, Monika
- Burjanivová, Tatiana
- Čierny, Daniel
- Nosál', Vladimír
Producer: 20181009
In:
Journal of the neurological sciences vol. 376
Availability: No items available.
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism. [electronic resource] by
- Suliman, Sara G I
- Stanik, Juraj
- McCulloch, Laura J
- Wilson, Natalie
- Edghill, Emma L
- Misovicova, Nadezda
- Gasperikova, Daniela
- Sandrikova, Vilja
- Elliott, Katherine S
- Barak, Lubomir
- Ellard, Sian
- Volpi, Emanuela V
- Klimes, Iwar
- Gloyn, Anna L
Producer: 20091214
In:
Diabetes vol. 58
Availability: No items available.
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Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans. [electronic resource] by
- Gasperíková, Daniela
- Tribble, Nicolas D
- Staník, Juraj
- Hucková, Miroslava
- Misovicová, Nadezda
- van de Bunt, Martijn
- Valentínová, Lucia
- Barrow, Beryl A
- Barák, L'ubomir
- Dobránsky, Radoslav
- Bereczková, Eva
- Michálek, Jozef
- Wicks, Kate
- Colclough, Kevin
- Knight, Julian C
- Ellard, Sian
- Klimes, Iwar
- Gloyn, Anna L
Producer: 20090915
In:
Diabetes vol. 58
Availability: No items available.
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