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Zackai, Elaine H.

https://orcid.org/0000-0002-8002-893X

A5008262289 | I1335321130

Children's Hospital of Philadelphia

Citations 3

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances | December 3, 2020 | Volume: 6 | Issue: 49 | Pages: No page available

10.1126/sciadv.abc9207 | PMID 33268356

Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315

10.1002/humu.23929 | PMID 31595648

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Human Mutation | July 14, 2015 | Volume: 36 | Issue: 11 | Pages: 1052-1063

10.1002/humu.22832 | PMID 26178382