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Author/Creator Mendelsohn, Nancy

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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Available online (eLD content is only available in our Reading Rooms) ↗

2. POGZ truncating alleles cause syndromic intellectual disability. Issue 1 (December 2016)

Authors:
White, Janson; Beck, Christine; Harel, Tamar; Posey, Jennifer; Jhangiani, Shalini; Tang, Sha; Farwell, Kelly; Powis, Zöe; Mendelsohn, Nancy; Baker, Janice; Pollack, Lynda; Mason, Kati; Wierenga, Klaas; Arrington, Daniel; Hall, Melissa; Psychogios, Apostolos; Fairbrother, Laura; Walkiewicz, Magdal...
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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3. SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. Issue 9 (21st October 2021)

Authors:
Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E;...
Other Names:
author non-byline.; Bamshad M J author non-byline.; Leal S M author non-byline.; Nickerson D A author non-byline.; Anderson P author non-byline.; Bacus T J author non-byline.; Blue E E author non-byline.; Brower K author non-byline.; Buckingham K J author non-byline.; Chong J X author non-byline...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
888
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗