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Date 2018 Author/Creator Strom, Tim M.

2. MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy. Issue 1 (25th October 2018)

Authors:
Baumann, Matthias; Schreiber, Herbert; Schlotter‐Weigel, Beate; Löscher, Wolfgang N.; Stucka, Rolf; Karall, Daniela; Strom, Tim M.; Bauer, Peter; Krabichler, Birgit; Fauth, Christine; Glaeser, Dieter; Senderek, Jan
Journal:
Clinical genetics
Issue:
Volume 95:Issue 1(2019)
Page Start:
182
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Issue 8 (14th June 2018)

Authors:
Kumar, Raman; Gardner, Alison; Homan, Claire C.; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Lüdecke, Hermann‐Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E.; Mihalic Mosher, Theresa; Gille...
Journal:
Human mutation
Issue:
Volume 39:Issue 8(2018)
Page Start:
1126
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗