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1 Ergebnisse
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ITPase deficiency causes a Martsolf-like syndrome with a le..:
Handley, MT
;
Reddy, K
;
Wills, J
...
PLoS Genet. , 2019
Link:
https://qmro.qmul.ac.uk/xmlui/handle/123456789/70957
RT Journal T1
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy
UL https://suche.suub.uni-bremen.de/peid=base-ftqueenmaryuniv:oai:qmro.qmul.ac.uk:123456789_70957&Exemplar=1&LAN=DE A1 Handley, MT A1 Reddy, K A1 Wills, J A1 Rosser, E A1 Kamath, A A1 Halachev, M A1 Falkous, G A1 Williams, D A1 Cox, P A1 Meynert, A A1 Raymond, ES A1 Morrison, H A1 Brown, S A1 Allan, E A1 Aligianis, I A1 Jackson, AP A1 Ramsahoye, BH A1 von Kriegsheim, A A1 Taylor, RW A1 Finch, AJ A1 FitzPatrick, DR YR 2019 K1 Animals K1 Base Sequence K1 Cardiomyopathy K1 Dilated K1 Cataract K1 Child K1 Preschool K1 DNA Mutational Analysis K1 DNA K1 Mitochondrial K1 Female K1 Homozygote K1 Humans K1 Hypogonadism K1 Inosine K1 Intellectual Disability K1 Male K1 Metabolism K1 Inborn Errors K1 Mice K1 Knockout K1 Mouse Embryonic Stem Cells K1 Mutation K1 Pedigree K1 Pyrophosphatases K1 RNA K1 Whole Exome Sequencing JF PLoS Genet LK http://dx.doi.org/https://qmro.qmul.ac.uk/xmlui/handle/123456789/70957 DO https://qmro.qmul.ac.uk/xmlui/handle/123456789/70957 SF ELIB - SuUB Bremen
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