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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
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
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
PMID 19540516·J Pediatr·2009
5-case
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).
PMID 19089418·Pediatr Radiol·2009
6-review
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.
PMID 19523149·Ann Hum Genet·2009
8-other
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
PMID 18653764·FASEB J·2008
8-other
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
PMID 18544035·Annu Rev Genomics Hum Genet·2008
6-review
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
PMID 18397837·Mol Genet Metab·2008
8-other
Nephropathic cystinosis: late complications of a multisystemic disease.
PMID 18008091·Pediatr Nephrol·2008
5-case
Newborn screening for Wilson disease: does liquid chromatography-tandem mass spectrometry provide the solution?
PMID 19042985·Clin Chem·2008
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 10 CENTER DRIVE MSC 1851, BLDG. 10, ROOM 10C-103, NHGRI, NIH
BETHESDA, MD 20892 - Phone
- (301) 402-2739
Quick Facts
- NPI
- 1992948582
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 3
- Locations
- 1
- Publications
- 20
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