• A case of myelodysplastic syndrome transforming into acute B-cell lymphoid leukemia
• A nationwide evaluation of multiple congenital abnormalities in Hungary
• A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary
• Antepartum glucocorticoid treatment: the effect of prednisolone on umbilical blood glucose, plasma free fatty acids and individual free amino acid levels
• Autosomal dominant inheritance of benign bilateral acromial dimples
• B type of Willebrand-Jürgens syndrome. A family study
• Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs
• Cat-eye syndrome, a partial trisomy 22
• Celiac disease relatively frequently associated with sex chromosome aberrations
• Clinical manifestations of genetic instability overlap one another
• Clinical signs of mosaicism
• Cohen syndrome: a connective tissue disorder?
• Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion
• Current interpretation of mosaicism
• Deep Molecular and In Silico Protein Analysis of p53 Alteration in Myelodysplastic Neoplasia and Acute Myeloid Leukemia
• Delayed speech development with facial asymmetry
• Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome?
• Detection of parental mosaicism in Down syndrome
• Detection of SARS-CoV-2 proteins by immunohistochemistry in human tissues Pathology collaborative analysis
• DFV890: a new oral NLRP3 inhibitor-tested in an early phase 2a randomised clinical trial in patients with COVID-19 pneumonia and impaired respiratory function
• Down syndrome with XO/XX mosaicism
• Down's syndrome with familial G-G translocation
• Down's syndrome: chromosome analysis of 362 cases in Hungary
• Dubowitz syndrome
• Extra mini-chromosome with symptoms of cat-eye syndrome
• Familial copper deficiency
• Gastrointestinal malformations, associated congenital abnormalities, and intrauterine growth
• Genetic studies in severe mental retardation
• Increased prevalence of minor physical anomalies in patients with epilepsy
• Intrauterine diagnosis of G-G translocation
• Intrauterine growth in autosomal trisomy syndromes
• Meigs' syndrome (ovarian ascites)
• Microsatellite instability in non-endometrioid ovarian epithelial tumors: a study of 400 cases comparing immunohistochemistry, PCR, and NGS based testing with mutation status of MMR genes
• Minor malformations in mental retardation of various aetiology
• Minor morphological aberrations in children with isolated urinary tract malformations
• Minor physical anomalies are more common among the first-degree unaffected relatives of schizophrenia patients - Results with the Méhes Scale
• Morphogenetic variants in parents of children with recessive malformation syndromes
• Morphologic variants in parents of children with malformation syndromes: are they indicators of somatic mosaicism?
• Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype
• New influenza virus (H1N1) related pneumonia with fatal outcome
• No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation
• Non-random centromere division: a mechanism of non-disjunction causing aneuploidy?
• Ocular movement disturbances in a family with trisomy 22 syndrome
• On the mechanism of the increased proneness to fibrillation of the "in situ" heart in hypothermia
• On the practical possibilities of clinical genetics
• Parental centromere separation sequence and aneuploidy in the offspring
• Paternal trisomy 21 mosaicism and Down's anomaly
• Pathomechanism and clinical impact of myelofibrosis in neoplastic diseases of the bone marrow
• Phenotypic and genotypic analyses of blastic cell population suggest that pure B-lymphoblastic leukemia may arise from myelodysplastic syndrome
• Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families
• Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation
• Physicians' attitudes regarding Down syndrome
• Possible dominant inheritance of the idiopathic hypercalcemic syndrome
• Posterior Reversible Encephalopathy Syndrome (PRES) Associated with Thrombotic Thrombocytopenic Purpura in a Systemic Lupus Erythematosus Patient
• Preauricular pits in Hungary: epidemiologic and clinical observations
• Prevention of respiratory distress syndrome by antenatal maternal steroid treatment
• Satellite associations in autosomal and gonosomal chromosome abnormalities and in hypothyreosis
• Sex chromosome aberration screening among male psychiatric patients (author's transl)
• Silver-Russel syndrome in a 5 one half-year-old boy
• Simian crease
• Studies on Meigs' syndrome
• Supernumerary digital flexion creases
• Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation
• Tel Hashomer camptodactyly syndrome: 12-year follow-up of a Hungarian patient and review
• The pathophysiology, clinical signs and therapy of urate nephropathy
• Transformation of chronic lymphocytic leukemia to myelodysplastic syndrome: case presentation and review of the literature
• Type of feeding does not influence thyroid hormone levels in premature infants
• Typical Edwards' syndrome (trisomy 18)
• Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome
• Umbilical venous catheterization and development of Banti syndrome: the possible role of the factor V Leiden mutation
• Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
• Urinary excretion of beta-aminoisobutyric acid in Down's syndrome and in idiopathic mental retardation
• Urinary hydroxyproline and glycosaminoglycan excretion in Down's syndrome
• WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma
• XX-XXX mosaicis and the YY syndrome in connection with 2 psychiatric cases