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Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

BMC pediatrics, 2021-07, Vol.21 (1), p.1-331, Article 331

2021

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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

BMC pediatrics, 2020-01, Vol.20 (1), p.17-17, Article 17

2020

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Predicting immune checkpoint therapy response in three independent metastatic melanoma cohorts

Frontiers in oncology, 2024-07, Vol.14, p.1428182

2024

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Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

Molecular cytogenetics, 2022-05, Vol.15 (1), p.19-19, Article 19

2022

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Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort

Molecular cytogenetics, 2022-11, Vol.15 (1), p.1-47, Article 47

2022

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A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging

Diagnostics (Basel), 2023-07, Vol.13 (14), p.2368

2023

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Nemi kromoszóma-rendellenességek vizsgálata gyermekkorban

Orvosi hetilap, 2018-07, Vol.159 (27), p.1121-1128

2018

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NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

Frontiers in neurology, 2021-06, Vol.12, p.668640-668640

2021

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1558 Mutational spectrum of X-linked hypophosphatemia (XLH) in Hungarian patients

Nephrology, dialysis, transplantation, 2024-05, Vol.39 (Supplement_1)

2024

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Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family

Hormone research in paediatrics, 2020-04, Vol.92 (5), p.335-339

2020

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Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome

Molecular syndromology, 2021-08, Vol.12 (5), p.300-304

2021

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Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

Clinical epigenetics, 2020-05, Vol.12 (1), p.63-63, Article 63

2020

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Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study

Journal of inherited metabolic disease, 2023-09, Vol.46 (5), p.956-971

2023

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A 22q11.2-microdeletiós szindróma klinikai jellemzői

Orvosi hetilap, 2022-01, Vol.163 (1), p.21-30

2022

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9p triszómia és a klinikai sokszínűség: egy váratlan megjelenésű eset ismertetése

Orvosi hetilap, 2018-11, Vol.159 (47), p.1994-2000

2018

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Clinical aspects of 22q11.2 microdeletion syndrome

Orvosi hetilap, 2022-01, Vol.163 (1), p.21

2022

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Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature

European journal of medical genetics, 2020-10, Vol.63 (10), p.104027, Article 104027

2020

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Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement

Journal of genetics, 2021-10, Vol.100 (2), Article 66

2021

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Up Front

Theater (New Haven, Conn.), 2008-05, Vol.38 (2), p.2-4

Lengyel, Anna

2008

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Taguchi optimisation of ELISA procedures

Journal of immunological methods, 1999-03, Vol.223 (2), p.137-146

1999

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Cross-reactivity between human adenoviruses in delayed-type hypersensitivity

APMIS : acta pathologica, microbiologica et immunologica Scandinavica, 2005-03, Vol.113 (3), p.197-202

2005

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Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome

Molecular syndromology, 2021, Vol.12 (5), p.300-304

2021

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Incidence of oropharyngeal candidosis in stem cell transplant (SCT) patients

Acta microbiologica et immunologica Hungarica, 2005, Vol.52 (1), p.85-94

2005

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Newly discovered hepatitis viruses--do they cause hepatitis indeed?

Orvosi hetilap, 2003-08, Vol.144 (32), p.1569

2003

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Soluble Components of Adenovirus Type 8

Journal of Virology, 1970-10, Vol.6 (4), p.406-413

1970

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Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

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

Predicting immune checkpoint therapy response in three independent metastatic melanoma cohorts

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort

A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging

Nemi kromoszóma-rendellenességek vizsgálata gyermekkorban

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

1558 Mutational spectrum of X-linked hypophosphatemia (XLH) in Hungarian patients

Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family

Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study

A 22q11.2-microdeletiós szindróma klinikai jellemzői

9p triszómia és a klinikai sokszínűség: egy váratlan megjelenésű eset ismertetése

Clinical aspects of 22q11.2 microdeletion syndrome

Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature

Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement

Up Front

Taguchi optimisation of ELISA procedures

Cross-reactivity between human adenoviruses in delayed-type hypersensitivity

Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome

Incidence of oropharyngeal candidosis in stem cell transplant (SCT) patients

Newly discovered hepatitis viruses--do they cause hepatitis indeed?

Soluble Components of Adenovirus Type 8

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