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Office
3401 Civic Center Blvd
Childrens Hospital of Philadelphia General Peds
Philadelphia, PA 19104Phone+1 215-590-2164Fax+1 215-590-2180
Summary
- Dr. Rachel (Kaufman) Hachen, MD is a pediatrician in Philadelphia, Pennsylvania.
Publications & Presentations
PubMed
- 77 citationsClinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks
Human Mutation. 2020-01-01 - 26 citationsExpanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen
Genetics in Medicine. 2019-04-01 - Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlat...Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen
Genetics in Medicine. 2018-01-01
