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Author/Creator Werber, Martin

1. A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Issue 5 (21st February 2019)

Authors:
Yüksel, Zafer; Vogel, Florian; Alhashem, Amal M.; Alanzi, Talal S.A.; Tabarki, Brahim; Kampe, Kapil; Kandaswamy, Krishna K.; Werber, Martin; Bertoli‐Avella, Aida M.; Beetz, Christian; Rolfs, Arndt; Bauer, Peter
Journal:
Clinical genetics
Issue:
Volume 95:Issue 5(2019)
Page Start:
631
Record Type:
Journal Article
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3. Validation of a semiconductor next‐generation sequencing assay for the clinical genetic screening of CFTR. Issue 5 (16th April 2015)

Authors:
Trujillano, Daniel; Weiss, Maximilian E. R.; Köster, Julia; Papachristos, Efstathios B.; Werber, Martin; Kandaswamy, Krishna Kumar; Marais, Anett; Eichler, Sabrina; Creed, Jenny; Baysal, Erol; Jaber, Iqbal Yousuf; Mehaney, Dina Ahmed; Farra, Chantal; Rolfs, Arndt
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 5(2015:Sep.)
Page Start:
396
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗