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Author/Creator Chambers, Chelsea

3. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. (6th December 2020)

Authors:
Schneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arell...
Journal:
Epilepsia
Issue:
Volume 62:issue 1(2021)
Page Start:
e13
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN. Issue 3 (25th March 2018)

Authors:
Williams, Eli S.; Barrett, Matthew J.; Dhamija, Radhika; Toran, Lisa; Chambers, Chelsea; Mahadevan, Mani S.; Golden, Wendy L.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 6:Issue 3(2018)
Page Start:
457
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗