Iskalni niz:
išči po
išči po
išči po
išči po
Vrsta gradiva:
Jezik:
Št. zadetkov: 5
Clinical outcome of hypertrophic cardiomyopathy in probands with the founder variant c.913_914del in mybpc3
Nina Vodnjov, Aleš Maver, Nataša Teran, Borut Peterlin, Janez Toplišek, Karin Writzl, Karin Writzl
Izvirni znanstveni članek
Oznake: cardiogenetics;cardiology;mybpc3;
Hypertrophic cardiomyopathy is often caused by pathogenic MYBPC3 variants. The study of Italian patients with HCM and MYBPC3(NM_000256.3):c.913_914del showed a higher disease penetrance in males and a higher frequency of arrhythmias compared to patients with other likely pathogenic and pathogenic (L ...
Leto: 2024 Vir: Biotehniška fakulteta (UL BF)
Predimplantacijska genetska diagnostika
Karin Writzl
Pregledni znanstveni članek
Oznake: predimplantacijska genetska diagnostika;PGD;predimplantacijsko genetsko presejanje;PGS;kromosomske mutacije;monogenske bolezni;
Background: Preimplantation genetic diagnosis (PGD) is used to analyze embryos before their transfer into uterus. It is suitable for a group of patients who are at a substantial risk of conceiving a pregnancy affected by aknown genetic defect. PGD requires medically assisted reproduction, embryo bio ...
Leto: 2013 Vir: dLib.si Digitalna knjižnica Slovenije
Prekinitve nosečnosti zaradi razvojnih nepravilnosti plodov - analiza 4-letnega obdobja
Miha Lučovnik, Jasna Šinkovec, Karin Writzl, Nataša Tul
Objavljeni strokovni prispevek na konferenci
Oznake:
Leto: 2009 Vir: dLib.si Digitalna knjižnica Slovenije
Predimplantacijska genetska diagnostika - 4-letne izkušnje na Ginekološki kliniki Univerzitetnega kliničnega centra Ljubljana
Karin Writzl, Alenka Veble, Jerneja Kmecl, Borut Peterlin
Objavljeni strokovni prispevek na konferenci
Oznake: medicinska genetika;ginekologija;genetska diagnostika;
Leto: 2009 Vir: dLib.si Digitalna knjižnica Slovenije
Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients
Nina Vodnjov, Anja Zupan, Aleš Maver, Ajda Dolinšek, Borut Peterlin, Karin Writzl
Izvirni znanstveni članek
Oznake: sarrhythmogenic non-dilated left ventricular cardiomyopathy;cardiogenetic;cardiology;DSP;DSP:c.3793G>T;founder;
DSP-cardiomyopathy has recently been recognised as a specific type of cardiomyopathy. Using an in-house Mendelian disease registry, we aimed to identify probands with likely pathogenic or pathogenic DSP variants. We detected these variants in 4.8% and 77.8% of genotype-positive probands referred for ...
Leto: 2024 Vir: Biotehniška fakulteta (UL BF)
Št. zadetkov: 5
Ključne besede:
Leto izdaje:
Avtorji:
Repozitorij:
Tipologija:
Jezik: