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BENJAMIN HAMEL, MD
MD
Pediatrics Physician
NPI: 1790362648Individual
Specialties, Licenses & Credentials
Research & Publications (20)
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
PMID 19238151·Mol Psychiatry·2010
7-preclinical
Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.
PMID 19430947·Eur J Pediatr·2010
5-case
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
PMID 19525956·Nat Genet·2009
8-other
Neurologic aspects of MECP2 gene duplication in male patients.
PMID 19664534·Pediatr Neurol·2009
5-case
Fibrillin-1 staining anomalies are associated with increased staining for TGF-beta and elastic fibre degradation; new clues to the pathogenesis of emphysema.
PMID 19373854·J Pathol·2009
8-other
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.
PMID 19291773·Am J Med Genet A·2009
5-case
Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.
PMID 19221853·J Neurol·2009
6-review
PORCN mutations in focal dermal hypoplasia: coping with lethality.
PMID 19309688·Hum Mutat·2009
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
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Contact & Hours
Via practice · 2 locations total
- Address
- 4401 PENN AVE
PITTSBURGH, PA 15224 - Phone
- (412) 692-7885
Quick Facts
- NPI
- 1790362648
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 2
- Publications
- 20
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