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Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses. [electronic resource] by
- Vodicka, Radek
- Vrtel, Radek
- Dusek, Ladislav
- Prochazka, Martin
- Schneiderova, Eva
- Vrbicka, Dita
- Krejcirikova, Eva
- Dhaifalah, Ishraq
- Santava, Alena
- Santavy, Jiri
Producer: 20081104
In:
Prenatal diagnosis vol. 28
Availability: No items available.
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A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia. [electronic resource] by
- Musova, Zuzana
- Kaiserova, Michaela
- Kriegova, Eva
- Fillerova, Regina
- Vasovcak, Peter
- Santava, Alena
- Mensikova, Katerina
- Zumrova, Alena
- Krepelova, Anna
- Sedlacek, Zdenek
- Kanovsky, Petr
Producer: 20141222
In:
Cerebellum (London, England) vol. 13
Availability: No items available.
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Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients. [electronic resource] by
- Capkova, Zuzana
- Capkova, Pavlina
- Srovnal, Josef
- Staffova, Katerina
- Becvarova, Vera
- Trkova, Marie
- Adamova, Katerina
- Santava, Alena
- Curtisova, Vaclava
- Hajduch, Marian
- Prochazka, Martin
Publication details: PeerJ 2019
In:
PeerJ vol. 7
Availability: No items available.
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MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism. [electronic resource] by
- Capkova, Pavlina
- Srovnal, Josef
- Capkova, Zuzana
- Staffova, Katerina
- Becvarova, Vera
- Trkova, Marie
- Adamova, Katerina
- Santava, Alena
- Curtisova, Vaclava
- Hajduch, Marian
- Prochazka, Martin
Publication details: PeerJ 2019
In:
PeerJ vol. 6
Availability: No items available.
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