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Author/Creator Wallace, Stephanie E.

1. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019)

Authors:
Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
299
Record Type:
Journal Article
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4. Recessive mutations in >VPS13D cause childhood onset movement disorders. Issue 6 (10th April 2018)

Authors:
Gauthier, Julie; Meijer, Inge A.; Lessel, Davor; Mencacci, Niccolò E.; Krainc, Dimitri; Hempel, Maja; Tsiakas, Konstantinos; Prokisch, Holger; Rossignol, Elsa; Helm, Margaret H.; Rodan, Lance H.; Karamchandani, Jason; Carecchio, Miryam; Lubbe, Steven J.; Telegrafi, Aida; Henderson, Lindsay B.; Lo...
Journal:
Annals of neurology
Issue:
Volume 83:Issue 6(2018)
Page Start:
1089
Record Type:
Journal Article
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5. Recessive mutations in VPS13D cause childhood onset movement disorders. Issue 6 (10th April 2018)

Authors:
Gauthier, Julie; Meijer, Inge A.; Lessel, Davor; Mencacci, Niccolò E.; Krainc, Dimitri; Hempel, Maja; Tsiakas, Konstantinos; Prokisch, Holger; Rossignol, Elsa; Helm, Margaret H.; Rodan, Lance H.; Karamchandani, Jason; Carecchio, Miryam; Lubbe, Steven J.; Telegrafi, Aida; Henderson, Lindsay B.; Lo...
Journal:
Annals of neurology
Issue:
Volume 83:Issue 6(2018)
Page Start:
1089
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays. Issue 10 (13th August 2013)

Authors:
Shuvarikov, Andrey; Campbell, Ian M.; Dittwald, Piotr; Neill, Nicholas J.; Bialer, Martin G.; Moore, Christine; Wheeler, Patricia G.; Wallace, Stephanie E.; Hannibal, Mark C.; Murray, Michael F.; Giovanni, Monica A.; Terespolsky, Deborah; Sodhi, Sandi; Cassina, Matteo; Viskochil, David; Moghaddam...
Journal:
Human mutation
Issue:
Volume 34:Issue 10(2013:Oct.)
Page Start:
1415
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗