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[When is it necessary to refer a child with cancer to genetic counseling?].
Magy Onkol. 2020 Mar 17;64(1):38-42. Epub 2020 Feb 27.
Magy Onkol. 2020.
PMID: 32181761
Free article.
Review.
Hungarian.
TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.
Maasz A, Hadzsiev K, Ripszam R, Zsigmond A, Maka E, Knezy K, Lesch B, Nemeth A, Bene J, Galik B, Gyenesei A, Melegh B.
Maasz A, et al. Among authors: ripszam r.
Eur J Med Genet. 2022 Apr;65(4):104471. doi: 10.1016/j.ejmg.2022.104471. Epub 2022 Feb 28.
Eur J Med Genet. 2022.
PMID: 35240325
Free article.
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Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients.
Czakó M, Till Á, Szabó A, Ripszám R, Melegh B, Hadzsiev K.
Czakó M, et al. Among authors: ripszam r.
Int J Mol Sci. 2019 Oct 5;20(19):4935. doi: 10.3390/ijms20194935.
Int J Mol Sci. 2019.
PMID: 31590400
Free PMC article.
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Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing.
Kovesdi E, Ripszam R, Postyeni E, Horvath EB, Kelemen A, Fabos B, Farkas V, Hadzsiev K, Sumegi K, Magyari L, Moreno PG, Bauer P, Melegh B.
Kovesdi E, et al. Among authors: ripszam r.
Genes (Basel). 2021 Sep 10;12(9):1401. doi: 10.3390/genes12091401.
Genes (Basel). 2021.
PMID: 34573383
Free PMC article.
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Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
Szalai R, Melegh BI, Till A, Ripszam R, Csabi G, Acharya A, Schrauwen I, Leal SM, Komoly S, Kosztolanyi G, Hadzsiev K.
Szalai R, et al. Among authors: ripszam r.
Exp Mol Pathol. 2020 Aug;115:104471. doi: 10.1016/j.yexmp.2020.104471. Epub 2020 May 21.
Exp Mol Pathol. 2020.
PMID: 32446860
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