Author/Creator: Strom, Tim - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Strom, Tim

1. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Issue 1 (1st December 2020)

Authors:: Brugger, Melanie; Becker‐Dettling, Fiona; Brunet, Theresa; Strom, Tim; Meitinger, Thomas; Lurz, Eberhard; Borggraefe, Ingo; Wagner, Matias
Journal:: Annals of clinical and translational neurology
Issue:: Volume 8:Issue 1(2021)
Page Start:: 278
Record Type:: Journal Article
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2. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Issue 1 (1st December 2020)

Authors:: Brugger, Melanie; Becker‐Dettling, Fiona; Brunet, Theresa; Strom, Tim; Meitinger, Thomas; Lurz, Eberhard; Borggraefe, Ingo; Wagner, Matias
Journal:: Annals of clinical and translational neurology
Issue:: Volume 8:Issue 1(2021)
Page Start:: 278
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

3. Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken. (December 2015)

Authors:: Ni, Guiyan; Strom, Tim; Pausch, Hubert; Reimer, Christian; Preisinger, Rudolf; Simianer, Henner; Erbe, Malena
Journal:: BMC genomics
Issue:: Volume 16:Number 1(2015)
Page Start:: 1
Record Type:: Journal Article
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4. Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Issue 5 (4th September 2020)

Authors:: Kotzaeridou, Urania; Young‐Baird, Sara K.; Suckow, Vanessa; Thornburg, Alexis G.; Wagner, Matias; Harting, Inga; Christ, Stine; Strom, Tim; Dever, Thomas E.; Kalscheuer, Vera M.
Journal:: Clinical genetics
Issue:: Volume 98:Issue 5(2020)
Page Start:: 507
Record Type:: Journal Article
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5. Rare genetic variants in patients with cervical artery dissection. (December 2019)

Authors:: Traenka, Christopher; Kloss, Manja; Strom, Tim; Lyrer, Philippe; Brandt, Tobias; Bonati, Leo H; Grond-Ginsbach, Caspar; Engelter, Stefan
Journal:: European stroke journal
Issue:: Volume 4:Number 4(2019)
Page Start:: 355
Record Type:: Journal Article
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6. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. Issue 11 (8th September 2017)

Authors:: Said, Edith; Chong, Jessica X.; Hempel, Maja; Denecke, Jonas; Soler, Paul; Strom, Tim; Nickerson, Deborah A.; Kubisch, Christian; Bamshad, Michael J.; Lessel, Davor
Journal:: American journal of medical genetics
Issue:: Volume 173:Issue 11(2017)
Page Start:: 3098
Record Type:: Journal Article
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