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Irén Haltrich

Semmelweis University

45

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326

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Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

2021 BMC Pediatrics
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Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome.

2021 Molecular Syndromology
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Generation of multiple iPSC clones from a male schizophrenia patient carrying de novo mutations in genes KHSRP, LRRC7, and KIR2DL1, and his parents.

2021 Stem Cell Research
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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

2020 BMC Pediatrics
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Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature

2020 European Journal of Medical Genetics
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Comprehensive Profiling of Disease-Relevant Copy Number Aberrations Improves Risk Assessment and Unveils the Clonal Origin of Relapse in Pediatric Acute Lymphoblastic Leukemia

2019 Blood
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Comprehensive profiling of disease-relevant copy number aberrations for advanced clinical diagnostics of pediatric acute lymphoblastic leukemia

2019 Modern Pathology
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Hypodiploidy in Childhood Acute Myeloid Leukemia: A Retrospective Cohort Study within the International Berlin-Frankfurt-Münster Study Group

2018 Blood
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A Transgenic Mouse Model for Detection of Tissue-Specific Thyroid Hormone Action

2018 Endocrinology
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Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására = Rapid first-tier genetic diagnosis in patients with Prader–Willi syndrome

2018
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