E-LIB Suche - Ergebnisse für: Koczok, Katalin

1

#1558 Mutational spectrum of X-linked hypophosphatemia (XLH..:

Balogh, Istvan ; Szabo, Tamas ; Reusz, Gyorgy...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024

Link: https://doi.org/10.1093/..

2

Genetic counselling legislation and practice in cancer in E..:

McCrary, J Matt ; Van Valckenborgh, Els ; Poirel, Hélène A...
European Journal of Public Health. , 2024

Link: https://doi.org/10.1093/..

3

Double Heterozygosity for Rare Deleterious Variants in the ..:

Madar, László ; Majoros, Viktória ; Szűcs, Zsuzsanna...
International Journal of Molecular Sciences. 24 (2023) 20 - p. 15334 , 2023

Link: https://doi.org/10.3390/..

4

An Ultra-Rare Manifestation of an X-Linked Recessive Disord..:

Szűcs, Zsuzsanna ; Pinti, Éva ; Haltrich, Irén...
International Journal of Molecular Sciences. 23 (2022) 21 - p. 13076 , 2022

Link: https://doi.org/10.3390/..

5

Cytogenetic Investigation of Infertile Patients in Hungary:..:

Andó, Szilvia ; Koczok, Katalin ; Bessenyei, Beáta..
Genes. 13 (2022) 11 - p. 2086 , 2022

Link: https://doi.org/10.3390/..

6

A magyar Cystás Fibrosis Regiszter genetikai revíziója:

Deák, Anna ; Koczok, Katalin ; Bessenyei, Beáta...
Orvosi Hetilap. 163 (2022) 51 - p. 2052-2059 , 2022

Link: https://doi.org/10.1556/..

7

Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectoderm..:

Szabó, Tímea Margit ; Balogh, István ; Ujfalusi, Anikó...
Genes. 13 (2022) 12 - p. 2367 , 2022

Link: https://doi.org/10.3390/..

8

Interaction of maternal immune activation and genetic inter..:

Anderson, Allison ; Genaro-Mattos, Thiago C. ; Allen, Luke B....
Brain Research. 1759 (2021) - p. 147370 , 2021

Link: https://doi.org/10.1016/..

9

Biochemical and Clinical Effects of Vitamin E Supplementati..:

Koczok, Katalin ; Horváth, László ; Korade, Zeljka...
Biomolecules. 11 (2021) 8 - p. 1228 , 2021

Link: https://doi.org/10.3390/..

10

FBN1 gene mutations in 26 Hungarian patients with suspected..:

Madar, László ; Szakszon, Katalin ; Pfliegler, György...
Journal of Biotechnology. 301 (2019) - p. 105-111 , 2019

Link: https://doi.org/10.1016/..

11

Interfering effect of maternal cell contamination on invasi..:

Koczok, Katalin ; Gombos, Éva ; Madar, László..
Prenatal Diagnosis. 38 (2018) 9 - p. 713-719 , 2018

Link: https://doi.org/10.1002/..

12

Subcellular localization of sterol biosynthesis enzymes:

Koczok, Katalin ; Gurumurthy, Channabasavaiah B. ; Balogh, István..
Journal of Molecular Histology. 50 (2018) 1 - p. 63-73 , 2018

Link: https://doi.org/10.1007/..

13

A novel point mutation affecting Asn76 of dystrophin protei..:

Koczok, Katalin ; Merő, Gabriella ; Szabó, Gabriella P....
Neuromuscular Disorders. 28 (2018) 2 - p. 129-136 , 2018

Link: https://doi.org/10.1016/..

14

Analytical parameters and validation of homopolymer detecti..:

Ivády, Gergely ; Madar, László ; Dzsudzsák, Erika...
BMC Genomics. 19 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

15

Vulnerability of DHCR7+/− mutation carriers to aripiprazole..:

Korade, Zeljka ; Genaro-Mattos, Thiago C. ; Tallman, Keri A....
Journal of Lipid Research. 58 (2017) 11 - p. 2139-2146 , 2017

Link: https://doi.org/10.1194/..