Professor, Pediatrics, Ohio State University College of Medicine
Medical Genetics
Dr. Joan F. Atkin, MD
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Joan Atkin works in the field of Medical Genetics. She attended University of Hawaii John A. Burns School of Medicine. University of Hawaii John A. Burns School of Medicine has a rank of 74 in research and a 19 in primary care Joan F. Atkin, MD is also published. She has 9 publications published. The lastest publication: "High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...'
Publications
- High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
- A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.
- Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.
- Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.
- Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
- Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
- Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].
- Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.
Schools
University of Hawaii At Manoa
Doctors Specialties
- Clinical Cytogenetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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University of Iowa Hospitals and Clinics -
University of Hawaii John A. Burns School of Medicine
Hospital
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Nationwide Children's Hospital -
Ohio State University Wexner Medical Center
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