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KYLE STORM, MD
MD
Student in an Organized Health Care Education/Training Program
NPI: 1427751437Individual
Specialties, Licenses & Credentials
Student in an Organized Health Care Education/Training ProgramPrimary
Student in an Organized Health Care Education/Training Program
Code: 390200000X
Research & Publications (15)
High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).
PMID 17481968·J Cyst Fibros·2007
8-other
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.
PMID 19610114·Am J Med Genet A·2009
5-case
Increased cytokine production in interleukin-18 receptor alpha-deficient cells is associated with dysregulation of suppressors of cytokine signaling.
PMID 19592492·J Biol Chem·2009
7-preclinical
Pancytopenia with hypercellular bone marrow secondary to cytomegalovirus after cardiac transplant.
PMID 19560708·J Heart Lung Transplant·2009
5-case
Muscle pain as the only presenting symptom in a girl with dystrophinopathy.
PMID 18054699·Pediatr Neurol·2008
5-case
N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis.
PMID 17127107·J Cyst Fibros·2007
5-case
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
PMID 16965331·Clin Genet·2006
8-other
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.
PMID 16451137·Clin Genet·2006
5-case
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
PMID 16283885·Clin Genet·2005
4-observational
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
PMID 15793835·Am J Med Genet A·2005
5-case
An interstitial deletion of chromosome 7 at band q21: a case report and review.
PMID 15732063·Am J Med Genet A·2005
5-case
Absence of constitutional Y chromosome AZF deletions in patients with testicular germ cell tumors.
PMID 15667903·Urology·2005
8-other
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.
PMID 15637709·Am J Med Genet A·2005
5-case
The clinical pharmacokinetics of a new pharmacokinetically enhanced formulation of amoxicillin/clavulanate.
PMID 11354391·Clin Ther·2001
3-trial
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 3400 SPRUCE ST
PHILADELPHIA, PA 19104 - Phone
- (215) 823-4133
Quick Facts
- NPI
- 1427751437
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 15
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