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WILLIAM GAHL, M.D.

M.D.

Clinical Biochemical Genetics Physician

NPI: 1992948582Individual

Specialties, Licenses & Credentials

Clinical Genetics (M.D.) Physician

Medical Genetics — Clinical Genetics (M.D.)

Code: 207SG0201X

20993-020(WI)
Clinical Biochemical Genetics PhysicianPrimary

Medical Genetics — Clinical Biochemical Genetics

Code: 207SG0202X

20993-020(WI)
Pediatrics Physician

Pediatrics

Code: 208000000X

20993-020(WI)

Research & Publications (20)

Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy.
PMID 17709758·Ann Intern Med·2007
8-other
Engulfed.
PMID 16330232·Mol Genet Metab·2006
8-other
Early oral cysteamine therapy for nephropathic cystinosis.
PMID 14610675·Eur J Pediatr·2003
6-review
Cystinosis.
PMID 12110740·N Engl J Med·2002
6-review
Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.
PMID 12126938·Mol Genet Metab·2002
3-trial
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
PMID 19574260·J Med Genet·2010
5-case
Hermansky-Pudlak syndrome in two African-American brothers.
PMID 19334085·Am J Med Genet A·2009
5-case
Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes.
PMID 19236595·Oral Dis·2009
8-other
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
PMID 19420365·N Engl J Med·2009
7-preclinical
Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
PMID 19398212·Mol Genet Metab·2009
5-case

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

Address
10 CENTER DRIVE MSC 1851, BLDG. 10, ROOM 10C-103, NHGRI, NIH
BETHESDA, MD 20892

Quick Facts

NPI
1992948582
Entity Type
Individual
Gender
Male
Medicare
Not confirmed
Specialties
3
Locations
1
Publications
20

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