Suchergebnisse - "Szűcs, Zsuzsanna"

PubPharm (14)

1

The Importance of Nutrition in Menopause and Perimenopause-A Review

enthalten in: Nutrients | 2023

von Erdélyi, A. | Pálfi, E. | Tűű, L. | +5

2

Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer

enthalten in: International journal of molecular sciences | 2023

von Madar, L. | Majoros, V. | Szűcs, Z. | +6

3

Genetic revision of the Hungarian Cystic Fibrosis Registry

enthalten in: Orvosi hetilap | 2022

von Deák, A. | Koczok, K. | Bessenyei, B. | +8

4

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies

enthalten in: Genes | 2022

von Szabó, T. | Balogh, I. | Ujfalusi, A. | +6

5

An Ultra-Rare Manifestation of an X-Linked Recessive Disorder : Duchenne Muscular Dystrophy in a Female Patient

enthalten in: International journal of molecular sciences | 2022

von Szűcs, Z. | Pinti, �. | Haltrich, I. | +9

6

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia

enthalten in: Genes | 2022

von Madar, L. | Juhász, L. | Szűcs, Z. | +3

7

Greig Cephalopolysyndactyly Contiguous Gene Syndrome : Case Report and Literature Review

enthalten in: Genes | 2021

von Kozma, K. | Bembea, M. | Jurca, C. | +11

8

Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary

enthalten in: Genes | 2021

von Szűcs, Z. | Fitala, R. | Nyuzó, �. | +7

9

A Comprehensive Analysis of Hungarian MODY Patients-Part II : Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases

enthalten in: Life (Basel, Switzerland) | 2021

von Gaál, Z. | Szűcs, Z. | Kántor, I. | +7

10

A Comprehensive Analysis of Hungarian MODY Patients-Part I : Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes

enthalten in: Life (Basel, Switzerland) | 2021

von Gaál, Z. | Szűcs, Z. | Kántor, I. | +7