Katalog der Deutschen Nationalbibliothek

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Die Deutsche Nationalbibliothek in Frankfurt am Main ist an Fronleichnam, Donnerstag, 4. Juni 2026 geschlossen. // The German National Library in Frankfurt am Main will be closed on Thursday, 4 June 2026 due to a public holiday (Fronleichnam).

Mittwoch, den 10. Juni 2026 öffnen die Lesesäle der Deutschen Nationalbibliothek in Leipzig erst ab 13 Uhr. // On Wednesday 10 June 2026 The German National Library in Leipzig will not open until 13:00.

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	1	A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing Enthalten in European journal of human genetics 4.1.2021: 1-10
	2	Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel Enthalten in Genetics in medicine 4.6.2019: 1-11
	3	Genetics of hearing loss in the Arab population of Northern Israel Enthalten in European journal of human genetics 23.8.2018: 1-8
	4	Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness Enthalten in Journal of basic and clinical physiology and pharmacology Bd. 25, 2014, Nr. 3: 289-292. 4 S.
	5	Advances in genetic diagnostics for hereditary hearing loss Enthalten in Journal of basic and clinical physiology and pharmacology Bd. 24, 2013, Nr. 3: 165-170
	6	Future Trends and Potential for Treatment of Sensorineural Hearing Loss Enthalten in Seminars in hearing Bd. 27, 2006, Nr. 03: 193-204
	7	A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF Enthalten in Human genomics Bd. 19, 6.10.2025, Nr. 1, date:12.2025: 1-6
	8	A Pharmacoepidemiological Network Model for Drug Safety Surveillance Enthalten in Drug safety Bd. 35, 13.12.2012, Nr. 5, date:5.2012: 395-406
	9	An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge Enthalten in Genome biology Bd. 15, 25.3.2014, Nr. 3, date:3.2014: 1-18
	10	Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene Enthalten in Human genetics Bd. 141, 12.3.2022, Nr. 3-4, date:4.2022: 431-444

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Ergebnis der Suche nach: "Brownstein" and "Karen"
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