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المؤلفون: Lynn Pique, Michelle Pearl, Iris Schrijver, Martin Kharrazi, Steve Graham, Athena M. Cherry
المصدر: The Journal of Molecular Diagnostics. 18:39-50
مصطلحات موضوعية: 0301 basic medicine, Genetics, Newborn screening, medicine.diagnostic_test, Biology, medicine.disease, Cystic fibrosis, DNA sequencing, Pathology and Forensic Medicine, 03 medical and health sciences, 030104 developmental biology, Genotype, medicine, Molecular Medicine, Allele, Genotyping Techniques, Genotyping, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c12f99910f4da6034f9ce86e23317622Test
https://doi.org/10.1016/j.jmoldx.2015.07.005Test -
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المؤلفون: Marie-Luise Brennan, Iris Schrijver
المصدر: The Journal of Molecular Diagnostics. 18:3-14
مصطلحات موضوعية: 0301 basic medicine, Genetics, Newborn screening, biology, business.industry, Prenatal diagnosis, Disease, medicine.disease, Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, Pathology and Forensic Medicine, 03 medical and health sciences, 030104 developmental biology, Genotype, biology.protein, Molecular Medicine, Medicine, Epigenetics, Allele, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2b187fbc874c84e1422062b4fe90342aTest
https://doi.org/10.1016/j.jmoldx.2015.06.010Test -
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المؤلفون: Tianhui Ma, Christina Bridges, Jay Leonard, Yetsa Adadevoh, Norman P. Gerry, Julie M. Gastier-Foster, C. Sue Richards, Monique A. Johnson, Pat Furlong, Christine Beiswanger, Eileen Stonerock, Lisa V. Kalman, Lorraine Toji, Iris Schrijver, Jack Tarleton, Vanessa Rangel Miller, Robert E. Pyatt
المصدر: The Journal of Molecular Diagnostics. 13:167-174
مصطلحات موضوعية: musculoskeletal diseases, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, medicine.diagnostic_test, Biology, medicine.disease, Pathology and Forensic Medicine, genomic DNA, Multiplex polymerase chain reaction, medicine, Molecular Medicine, Medical genetics, Multiplex, Muscular dystrophy, Allele, SNP array, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d060851bb3eca7100f623b3546b0d875Test
https://doi.org/10.1016/j.jmoldx.2010.11.018Test -
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المؤلفون: Iris Schrijver, Dylan K. Chan, Kay W. Chang
المصدر: Genetics in Medicine. 12:174-181
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Hearing loss, Deafness, Biology, Audiology, Compound heterozygosity, medicine.disease_cause, California, Connexins, Audiometry, otorhinolaryngologic diseases, medicine, Humans, Allele, Child, Hearing Loss, Alleles, Genetics (clinical), Mutation, medicine.diagnostic_test, Phenotype, United States, Connexin 26, Cohort, Disease Progression, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::438a1ed1a8eadb1f490de1e86a7c0d81Test
https://doi.org/10.1097/gim.0b013e3181d0d42bTest -
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المؤلفون: Iris Schrijver, Juan Rodriguez-Paris
المصدر: Biochemical and Biophysical Research Communications. 389:354-359
مصطلحات موضوعية: Transcriptional Activation, Hearing Loss, Sensorineural, Biophysics, Connexin, Biology, Compound heterozygosity, medicine.disease_cause, Biochemistry, Connexins, Connexin 30, otorhinolaryngologic diseases, medicine, Humans, Allele, Promoter Regions, Genetic, Molecular Biology, Gene, Alleles, Sequence Deletion, Genetics, Mutation, Genetic Complementation Test, Cell Biology, medicine.disease, Digenic inheritance, Molecular biology, Connexin 26, biology.protein, Sensorineural hearing loss, sense organs, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8901fa0f44ec0e22192e5b856201802Test
https://doi.org/10.1016/j.bbrc.2009.08.152Test -
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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: Nicolette M. Chun, Franklin M. Mullins, Lisa Dietz, James L. Zehnder, Marla Lay, Iris Schrijver, James M. Ford
المصدر: Genetics in Medicine. 9:752-760
مصطلحات موضوعية: Genetics, dbSNP, Base Sequence, Intron, Single-nucleotide polymorphism, Biology, Cadherins, Disease gene identification, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Introns, Frameshift mutation, law.invention, Antigens, CD, law, Humans, Allele, Primer (molecular biology), Alleles, Genetics (clinical), Polymerase chain reaction, DNA Primers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f1425b1d83c3b661542886ab537bf03Test
https://doi.org/10.1097/gim.0b013e318159a369Test -
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المؤلفون: Iris Schrijver, John Oehlert, Richard B. Moss, Steve Swanson, Anja Kammesheidt, Phyllis Gardner, Steven Keiles, Ramalingam Sankaran, Sudha Ramalingam, Charles Dunlop, E. Robert Wassman
المصدر: The Journal of Molecular Diagnostics. 7:289-299
مصطلحات موضوعية: Genetics, Mutation, education.field_of_study, biology, Genetic counseling, Population, medicine.disease, medicine.disease_cause, Cystic fibrosis, DNA sequencing, Cystic fibrosis transmembrane conductance regulator, Pathology and Forensic Medicine, medicine, biology.protein, Molecular Medicine, Allele, education, Allele frequency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::823d374a3c58ea0e706cbd68e37f8c00Test
https://doi.org/10.1016/s1525-1578Test(10)60557-0 -
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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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المؤلفون: Iris Schrijver
المصدر: Clinical Chemistry. 57:799-801
مصطلحات موضوعية: Cystic Fibrosis, Clinical Biochemistry, Population, Cystic Fibrosis Transmembrane Conductance Regulator, Context (language use), Disease, Biology, medicine.disease_cause, Cystic fibrosis, White People, Asian People, medicine, Humans, Genetic Testing, Allele, education, Genetics, education.field_of_study, Mutation, Genetic Carrier Screening, Biochemistry (medical), Hispanic or Latino, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Ashkenazi jews, Black or African American, biology.protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c10e53f8883ddeb19540cb86cb00d981Test
https://doi.org/10.1373/clinchem.2011.164673Test