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Author/Creator Schwahn, Bernd

2. Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy. Issue 1 (22nd October 2022)

Authors:
Sitaram, Spatikha; Banka, Hetalika C.; Vassallo, Grace; Pavaine, Julija; Fairclough, Adele; Wright, Ronnie; Fairbanks, Lynette; Bierau, Jörgen; Bowden, Lydia; Schwahn, Bernd; Horman, Alistair; Banka, Siddharth
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
234
Record Type:
Journal Article
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4. Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Issue 1 (30th November 2016)

Authors:
Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean‐Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L.; Garcia‐Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld‐Adams, James D.; Kožich, Viktor; Blom, Hen...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 1(2017)
Page Start:
21
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Immediate versus delayed loading of strategic mini dental implants for the stabilization of partial removable dental prostheses: a patient cluster randomized, parallel-group 3-year trial. Issue 1 (December 2017)

Authors:
Mundt, Torsten; Al Jaghsi, Ahmad; Schwahn, Bernd; Hilgert, Janina; Lucas, Christian; Biffar, Reiner; Schwahn, Christian; Heinemann, Friedhelm
Journal:
BMC oral health
Issue:
Volume 17:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. The natural history of glycogen storage disease type Ib in England: A multisite survey. Issue 1 (24th January 2021)

Authors:
Halligan, Rebecca; White, Fiona J.; Schwahn, Bernd; Stepien, Karolina M.; Kamarus Jaman, Nazreen; McSweeney, Mel; Kitchen, Steve; Gribben, Joanna; Dawson, Charlotte; Lewis, Katherine; Cregeen, David; Mundy, Helen; Santra, Saikat
Journal:
JIMD reports
Issue:
Volume 59:Issue 1(2021)
Page Start:
52
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗