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IRIS SCHRIJVER, M.D.
M.D.
Clinical Pathology/Laboratory Medicine Physician
NPI: 1508058538Individual
Specialties, Licenses & Credentials
Clinical Pathology/Laboratory Medicine PhysicianPrimary
Pathology — Clinical Pathology/Laboratory Medicine
Code: 207ZP0105X
A76098(CA)
Research & Publications (20)
Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy.
PMID 19265752·Genet Med·2009
8-other
Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.
PMID 18556774·J Mol Diagn·2008
8-other
Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.
PMID 17384215·J Mol Diagn·2007
8-other
Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories.
PMID 17591939·J Mol Diagn·2007
4-observational
Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.
PMID 16706740·Expert Rev Mol Diagn·2006
6-review
Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype?
PMID 16952406·Int J Pediatr Otorhinolaryngol·2006
5-case
High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review.
PMID 15735818·Thromb Haemost·2005
5-case
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
PMID 16049310·J Mol Diagn·2005
8-other
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
PMID 15858154·J Mol Diagn·2005
4-observational
Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound.
PMID 15507665·J Mol Diagn·2004
6-review
Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes.
PMID 15345118·Genet Test·2004
8-other
Diagnostic single nucleotide polymorphism analysis of factor V Leiden and prothrombin 20210G > A. A comparison of the Nanogen Eelectronic Microarray with restriction enzyme digestion and the Roche LightCycler.
PMID 12710121·Am J Clin Pathol·2003
4-observational
Prothrombin gene variants in non-Caucasians with fetal loss and intrauterine growth retardation.
PMID 14573785·J Mol Diagn·2003
5-case
Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy.
PMID 11883832·J Neurosurg·2002
8-other
Labor and cost requirements of two commercial assays for qualitative molecular detection of hepatitis C virus.
PMID 12202596·J Clin Microbiol·2002
8-other
Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding.
PMID 11858490·Thromb Haemost·2002
5-case
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.
PMID 12068374·Am J Hum Genet·2002
8-other
Homozygous factor V splice site mutation associated with severe factor V deficiency.
PMID 11929802·Blood·2002
5-case
The role of the cytoskeleton in the formation of gap junctions by Connexin 30.
PMID 19285977·Exp Cell Res·2009
8-other
Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.
PMID 19027966·Int J Pediatr Otorhinolaryngol·2009
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
- 300 PASTEUR DR, STANFORD UNIVERSITY, PATHOLOGY DEPARTMENT L235
STANFORD, CA 94305 - Phone
- (650) 724-2403
Quick Facts
- NPI
- 1508058538
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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