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Service hours in Frankfurt am Main from 1 December 2025: Monday to Friday 9:00-18:00 and Saturday 10:00-16:00

Wegen Wartungsarbeiten ist vom 12. bis 14. Januar 2026 der Museumslesesaal, sowie vom 14. bis 16. Januar 2026 der Musiklesesaal geschlossen. // Due to maintenance work the museum reading room will be closed from 12 to 14 January 2026 and the music reading room from 14 to 16 January 2026.

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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
	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
	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
	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
	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
	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
	107	The Clinical Data Intelligence Project Enthalten in Informatik-Spektrum Bd. 39, 4.8.2015, Nr. 4, date:8.2016: 290-300
	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
	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
	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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