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1 |
Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models
Enthalten in European Molecular Biology Organization: EMBO molecular medicine Bd. 11, 2019, Nr. 7. 19 S.
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2 |
Recurrent KIF2A mutations are responsible for classic lissencephaly
Enthalten in Neurogenetics 17.10.2016: 1-7
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3 |
A quantitative and qualitative study of proteins of the gonadal extract during growth and phases of reproductive activity in the snailHelix aspersa Müller
Enthalten in Development genes and evolution Bd. 191, Nr. 2, date:3.1982: 91-94
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4 |
CD28/4-1BB CD123 CAR T cells in blastic plasmacytoid dendritic cell neoplasm
Enthalten in Leukemia Bd. 34, 28.2.2020, Nr. 12, date:12.2020: 3228-3241
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5 |
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Enthalten in Nature Communications Bd. 11, 30.11.2020, Nr. 1, date:12.2020: 1-16
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6 |
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
Enthalten in European journal of human genetics Bd. 26, 12.1.2018, Nr. 3, date:3.2018: 340-349
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