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Author/Creator Rustad, Cecilie F.

1. Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients. Issue 3 (11th February 2019)

Authors:
Vals, Mari‐Anne; Ashikov, Angel; Ilves, Pilvi; Loorits, Dagmar; Zeng, Qiang; Barone, Rita; Huijben, Karin; Sykut‐Cegielska, Jolanta; Diogo, Luísa; Elias, Abdallah F.; Greenwood, Robert S.; Grunewald, Stephanie; van Hasselt, Peter M.; van de Kamp, Jiddeke M.; Mancini, Grazia; Okninska, Agnieszka; ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
553
Record Type:
Journal Article
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2. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Issue 10 (29th July 2022)

Authors:
Hardcastle, Amy; Berry, Aliska M.; Campbell, Ian M.; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E.; Rosenfeld, Jill A.; Sisoudiya, Saumya D.; Hernandez‐Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L.; Capolino, Rossella; Digilio, Maria C.; Graziani, Ludovico;...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 10(2022)
Page Start:
2958
Record Type:
Journal Article
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4. Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up. Issue 6 (December 2019)

Authors:
Baliakas, Panagiotis; Tesi, Bianca; Wartiovaara-Kautto, Ulla; Stray-Pedersen, Asbj⊘rg; Friis, Lone Smidstrup; Dybedal, Ingunn; Hovland, Randi; Jahnukainen, Kirsi; Raaschou-Jensen, Klas; Ljungman, Per; Rustad, Cecilie F.; Lautrup, Charlotte K.; Kilpivaara, Outi; Kittang, Astrid Olsnes; Gr⊘nbæk, Ki...
Journal:
HemaSphere
Issue:
Volume 3:Issue 6(2019)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗