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STEPHEN FERNBACH, MD
MD
Neonatal-Perinatal Medicine Physician
NPI: 1487002010Individual
Specialties, Licenses & Credentials
Neonatal-Perinatal Medicine PhysicianPrimary
Pediatrics — Neonatal-Perinatal Medicine
Code: 2080N0001X
G21756(CA)
Research & Publications (20)
Towards an understanding of urinary tract infection in children: a model for the future of paediatric radiology and urology.
PMID 10961278·BJU Int·2000
6-review
Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.
PMID 19279158·Hum Mol Genet·2009
7-preclinical
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).
PMID 19142209·Eur J Hum Genet·2009
8-other
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
PMID 19064609·Hum Mol Genet·2009
8-other
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
PMID 16400610·Am J Hum Genet·2006
7-preclinical
Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.
PMID 16246949·Circulation·2005
8-other
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.
PMID 16144992·Circulation·2005
5-case
SNP genotyping to screen for a common deletion in CHARGE syndrome.
PMID 15710038·BMC Med Genet·2005
8-other
Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.
PMID 15690347·Am J Med Genet A·2005
8-other
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.
PMID 15466086·Pediatrics·2004
8-other
A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.
PMID 15390319·Birth Defects Res A Clin Mol Teratol·2004
8-other
Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.
PMID 15342840·Pediatrics·2004
8-other
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
PMID 14681828·Am J Hum Genet·2004
7-preclinical
Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy.
PMID 14623814·Circulation·2003
8-other
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
PMID 12673657·Am J Med Genet A·2003
8-other
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
PMID 12325025·Hum Mutat·2002
8-other
Axial torsion of Meckel's diverticulum presenting as a pelvic mass.
PMID 11727027·Pediatr Radiol·2001
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 755 THORSEN CT
LOS ALTOS, CA 94024 - Phone
- (650) 941-6514
Quick Facts
- NPI
- 1487002010
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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