Éva Pinti
Semmelweis Egyetem
H-index: 4
Europe-Hungary
Top articles of Éva Pinti
A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging
Diagnostics
2023/7/14
A pontos genetikai diagnózis jelentősége az 1-es típusú neurofibromatózisban és a nemi fejlődési zavarokban
2023
Éva Pinti
H-Index: 2
Microdeletions in 1q21 and 8q12. 1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes
Molecular Cytogenetics
2022/5/13
A 22q11. 2-microdeletiós szindróma klinikai jellemzői
Orvosi Hetilap
2022/1/2
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort
Molecular Cytogenetics
2022/11/1
An ultra-rare manifestation of an X-linked recessive disorder: Duchenne muscular dystrophy in a female patient
International Journal of Molecular Sciences
2022/10/28
Pre-and perinatal aspects of sex chromosome abnormalities and other gonadal dysgeneses
2022/5/20
Diagnostic difficulties and possibilities of NF1-like syndromes in childhood
BMC pediatrics
2021/12
Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement
Journal of Genetics
2021/10
Deletion of 16q22. 2q23. 3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome
Molecular Syndromology
2021/8/31
Fabry-betegség-diagnosztikai útmutató.
2010
Fabry-betegség–diagnosztikai útmutató
2021
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome
Clinical Epigenetics
2020/12
What should we consider in the case of combined Down-and 47, XY,+ i (X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature
2020/12
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature
2020/10/1
Similar cause, different phenotype: SOX9 enhancer duplication in a family
Hormone Research in Paediatrics
2020/4/29
