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101 |
Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability
Enthalten in BMC medical genomics Bd. 11, 23.4.2018, Nr. 1, date:12.2018: 1-11
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102 |
Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse
Enthalten in Neurogenetics Bd. 5, 22.10.2004, Nr. 4, date:12.2004: 229-238
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103 |
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
Enthalten in Scientific reports Bd. 8, 21.11.2018, Nr. 1, date:12.2018: 1-14
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104 |
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study
Enthalten in European journal of human genetics Bd. 30, 13.9.2022, Nr. 12, date:12.2022: 1413-1422
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105 |
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
Enthalten in Scientific reports Bd. 8, 8.3.2018, Nr. 1, date:12.2018: 1-12
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106 |
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
Enthalten in Orphanet journal of rare diseases Bd. 11, 29.9.2016, Nr. 1, date:12.2016: 1-7
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107 |
The Clinical Data Intelligence Project
Enthalten in Informatik-Spektrum Bd. 39, 4.8.2015, Nr. 4, date:8.2016: 290-300
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108 |
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
Enthalten in Human genetics Bd. 143, 19.7.2024, Nr. 8, date:8.2024: 965-978
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109 |
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Enthalten in Orphanet journal of rare diseases Bd. 14, 11.2.2019, Nr. 1, date:12.2019: 1-13
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110 |
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
Enthalten in Journal of molecular medicine Bd. 99, 18.9.2021, Nr. 12, date:12.2021: 1755-1768
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