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JOHN SHOFFNER, MD

MD

Clinical Molecular Genetics Physician

NPI: 1770547366Individual

Specialties, Licenses & Credentials

Clinical Genetics (M.D.) Physician

Medical Genetics — Clinical Genetics (M.D.)

Code: 207SG0201X

032655(GA)
Clinical Biochemical Genetics Physician

Medical Genetics — Clinical Biochemical Genetics

Code: 207SG0202X

032655(GA)
Clinical Molecular Genetics PhysicianPrimary

Medical Genetics — Clinical Molecular Genetics

Code: 207SG0203X

032655(GA)
Neurology Physician

Psychiatry & Neurology — Neurology

Code: 2084N0400X

032655(GA)
Neurodevelopmental Disabilities Physician

Psychiatry & Neurology — Neurodevelopmental Disabilities

Code: 2084P0005X

032655(GA)

Research & Publications (10)

Molecular analysis of oxidative phosphorylation diseases for detection of mitochondrial DNA mutations.
PMID 18428320·Curr Protoc Hum Genet·2001
8-other
Mitochondrial myopathy diagnosis.
PMID 10658170·Neurol Clin·2000
6-review
Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.
PMID 19520270·Pediatr Neurol·2009
5-case
Siblings with leukoencephalopathy.
PMID 19073330·Semin Pediatr Neurol·2008
5-case
Using telephone reminders to increase attendance at psychiatric appointments: findings of a pilot study in rural Appalachia.
PMID 17535951·Psychiatr Serv·2007
8-other
Developmental regression and mitochondrial dysfunction in a child with autism.
PMID 16566887·J Child Neurol·2006
5-case
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
PMID 14595441·Nat Genet·2003
8-other
Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children.
PMID 12738470·Am J Gastroenterol·2003
6-review
Rod photoreceptor function in children with mitochondrial disorders.
PMID 12149059·Arch Ophthalmol·2002
8-other
An introduction: oxidative phosphorylation diseases.
PMID 11641814·Semin Neurol·2001
6-review

Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.

Contact & Hours

Address
1 DUNWOODY PARK, SUITE 250
ATLANTA, GA 30338

Location

Practice Location

1 DUNWOODY PARK, ATLANTA, GA
(678) 225-0222

Quick Facts

NPI
1770547366
Entity Type
Individual
Gender
Male
Medicare
Not confirmed
Specialties
5
Locations
1
Publications
10

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