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المؤلفون: Iris Schrijver, Lisa Ma, James L. Zehnder, Jason Gotlib, Daniel A. Arber, Robert S. Ohgami, Jason D. Merker
المصدر: Modern Pathology. 28:706-714
مصطلحات موضوعية: Adult, Male, NPM1, Pathology, medicine.medical_specialty, Myeloid, Adolescent, DNA Mutational Analysis, Kaplan-Meier Estimate, Biology, medicine.disease_cause, Article, Disease-Free Survival, Dioxygenases, Pathology and Forensic Medicine, Young Adult, Proto-Oncogene Proteins, hemic and lymphatic diseases, CEBPA, Biomarkers, Tumor, medicine, Humans, Missense mutation, Child, neoplasms, Aged, Mutation, High-Throughput Nucleotide Sequencing, Nuclear Proteins, Myeloid leukemia, Middle Aged, Splicing Factor U2AF, medicine.disease, DNA-Binding Proteins, Repressor Proteins, Leukemia, Myeloid, Acute, Leukemia, medicine.anatomical_structure, Ribonucleoproteins, Dysplasia, Cancer research, Female, Tumor Suppressor Protein p53, Nucleophosmin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a7b9602087229d8fb8525b6fac20d8Test
https://doi.org/10.1038/modpathol.2014.160Test -
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المؤلفون: Curt Scharfe, Iris Schrijver, Ilana Traynis, Amy J. Sehnert, Lynn Pique
المصدر: Genetics in Medicine. 11:118-126
مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Adolescent, DNA Mutational Analysis, Cardiomyopathy, Biology, DNA, Mitochondrial, Denaturing high performance liquid chromatography, Cohort Studies, chemistry.chemical_compound, medicine, Humans, Multiplex, Child, Chromatography, High Pressure Liquid, Genetics (clinical), Extramural, Infant, Newborn, Infant, medicine.disease, Molecular biology, chemistry, Child, Preschool, Female, Cardiomyopathies, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acdddef1856b74239d21db4a922329c8Test
https://doi.org/10.1097/gim.0b013e318190356bTest -
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المؤلفون: Krista Rappahahn, Martin Kharrazi, Iris Schrijver, Lynn Pique, Lee-Jun C. Wong
المصدر: The Journal of Molecular Diagnostics. 10:368-375
مصطلحات موضوعية: Cystic Fibrosis, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Pathology and Forensic Medicine, Exon, Gene Frequency, medicine, Humans, Multiplex ligation-dependent probe amplification, Allele, Sequence Deletion, Genetics, Mutation, Base Sequence, Hybridization probe, Point mutation, Reproducibility of Results, Exons, Hispanic or Latino, Nucleic acid amplification technique, Molecular biology, Cystic fibrosis transmembrane conductance regulator, biology.protein, Molecular Medicine, DNA Probes, Nucleic Acid Amplification Techniques, Regular Articles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75e0fa492131aea730df036df6d980c6Test
https://doi.org/10.2353/jmoldx.2008.080004Test -
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المؤلفون: Phyllis Gardner, Iris Schrijver
المصدر: Expert Review of Molecular Diagnostics. 6:375-386
مصطلحات موضوعية: Heterozygote, medicine.medical_specialty, Hearing loss, Hearing Loss, Sensorineural, DNA Mutational Analysis, Audiology, Models, Biological, Connexins, Hearing screening, Pathology and Forensic Medicine, Genetic etiology, Molecular genetics, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, Genetic heterogeneity, business.industry, Homozygote, medicine.disease, Phenotype, Molecular Diagnostic Techniques, Mutation, Mutation (genetic algorithm), Mutation testing, Molecular Medicine, Sensorineural hearing loss, medicine.symptom, business, Algorithms, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43cdaa3ef687357930affc5655c2b24Test
https://doi.org/10.1586/14737159.6.3.375Test -
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المؤلفون: Eneli Oitmaa, Phyllis Gardner, Andres Metspalu, Iris Schrijver
المصدر: The Journal of Molecular Diagnostics. 7:375-387
مصطلحات موضوعية: Cystic Fibrosis, Genotype, Microarray, Genetic counseling, DNA Mutational Analysis, Population, Genetic Carrier Screening, Cystic Fibrosis Transmembrane Conductance Regulator, Primer extension, Pathology and Forensic Medicine, medicine, Humans, Genetic Testing, education, Genotyping, Oligonucleotide Array Sequence Analysis, Genetic testing, Genetics, education.field_of_study, biology, medicine.diagnostic_test, Cystic fibrosis transmembrane conductance regulator, Mutation, biology.protein, Molecular Medicine, Regular Articles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f297219392a19a51f39eaea6a65dfc77Test
https://doi.org/10.1016/s1525-1578Test(10)60567-3 -
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المؤلفون: Nilesh Dharajiya, Niloufar Neely Kazerouni, Iris Schrijver, Fred Lorey, Tina M. Cowan, Marie Roberson, Christina Hodgkinson
المصدر: Molecular Genetics and Metabolism. 106:485-487
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Population, Biochemistry, California, Neonatal Screening, Endocrinology, Genetics, medicine, Humans, Allele, education, Molecular Biology, Biotinidase Deficiency, Newborn screening, education.field_of_study, Biotinidase, business.industry, Incidence, Incidence (epidemiology), Biotinidase deficiency, Infant, Newborn, Hispanic or Latino, medicine.disease, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f078077eb2333c61eecbe4fb36e9aeaTest
https://doi.org/10.1016/j.ymgme.2012.05.017Test -
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المصدر: Journal of Neurosurgery. 96:483-489
مصطلحات موضوعية: Adult, Male, Marfan syndrome, Pathology, medicine.medical_specialty, Biopsy, Fibrillin-1, DNA Mutational Analysis, Intracranial Hypotension, Connective tissue, Fibrillins, Marfan Syndrome, Central nervous system disease, Cerebrospinal fluid, medicine, Humans, Fluorescent Antibody Technique, Indirect, Skin, Cerebrospinal fluid leak, business.industry, Microfilament Proteins, Headache, Fibroblasts, medicine.disease, Connective tissue disease, Subdural Effusion, medicine.anatomical_structure, Female, business, Fibrillin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a003bac962cab782df5b416e703a1bc2Test
https://doi.org/10.3171/jns.2002.96.3.0483Test -
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المؤلفون: Neng Chen, Iris Schrijver
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 13(12)
مصطلحات موضوعية: Genetics, Base Sequence, DNA Copy Number Variations, DNA Mutational Analysis, Molecular Sequence Data, Restriction Mapping, Cystic Fibrosis Transmembrane Conductance Regulator, Signal Processing, Computer-Assisted, Stereoisomerism, Sequence Analysis, DNA, Biology, Allelic discrimination, Real-Time Polymerase Chain Reaction, Molecular biology, Connexins, Connexin 26, Mutation, otorhinolaryngologic diseases, Humans, Digital polymerase chain reaction, Pathology, Molecular, Genetics (clinical), Cis–trans isomerism, Alleles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62fa3f049b2f24cea8d79ceaa5a54258Test
https://pubmed.ncbi.nlm.nih.gov/21836520Test -
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المؤلفون: Nanna Dahl Rendtorff, Iris Schrijver, Lisbeth Tranebjærg, Neng Chen
المصدر: The Journal of molecular diagnostics : JMD. 13(4)
مصطلحات موضوعية: Hearing Loss, Sensorineural, DNA Mutational Analysis, Locus (genetics), Biology, High Resolution Melt, Pathology and Forensic Medicine, symbols.namesake, medicine, Humans, Transition Temperature, splice, Pendred syndrome, Sanger sequencing, Genetics, Membrane Transport Proteins, Reproducibility of Results, Regular Article, Amplicon, medicine.disease, Molecular Diagnostic Techniques, Sulfate Transporters, Mutation testing, symbols, Molecular Medicine, Allelic heterogeneity, sense organs, Goiter, Nodular
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d64972474cb8ec8fe5d9c22e221c527Test
https://pubmed.ncbi.nlm.nih.gov/21704276Test -
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المصدر: American journal of clinical pathology. 133(5)
مصطلحات موضوعية: Genotype, Population, DNA Mutational Analysis, Locus (genetics), beta-Globins, Biology, Compound heterozygosity, DNA sequencing, California, law.invention, Hemoglobins, law, medicine, Ethnicity, Humans, education, Gene, Polymerase chain reaction, Genetics, education.field_of_study, Polymorphism, Genetic, beta-Thalassemia, General Medicine, Cultural Diversity, Genomics, medicine.disease, Hemoglobinopathy, Mutation, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbfb564b823e2c73f5dc853b417b2661Test
https://pubmed.ncbi.nlm.nih.gov/20395516Test