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1دورية أكاديمية
المصدر: PeerJ, Vol 4, p e2494 (2016)
مصطلحات موضوعية: Hearing loss, Connexin 26, IP3, FRAP, p.Gly45Arg, GJB2, Medicine, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://peerj.com/articles/2494.pdfTest; https://peerj.com/articles/2494Test/; https://doaj.org/toc/2167-8359Test
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2دورية أكاديمية
المؤلفون: Juan Rodriguez-Paris, Lynn Pique, Tahl Colen, Joseph Roberson, Phyllis Gardner, Iris Schrijver
المصدر: PLoS ONE, Vol 5, Iss 7, p e11804 (2010)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC2909915?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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3دورية أكاديمية
المؤلفون: Wenyi Wang, Peidong Shen, Sreedevi Thiyagarajan, Shengrong Lin, Curtis Palm, Rita Horvath, Thomas Klopstock, David Cutler, Lynn Pique, Iris Schrijver, Ronald W. Davis, Michael Mindrinos, Terence P. Speed, Curt Scharfe
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/c0/d4/Nucleic_Acids_Res_2011_Jan_15_39(1)_44-58.tar.gz
وصف الملف: application/zip
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4
المؤلفون: Lynn Pique, Iris Schrijver, Steve Graham, Martin Kharrazi, Michelle Pearl
المصدر: Genetics in Medicine. 19:36-44
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Pathology, Cystic Fibrosis, Genotype, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, White People, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Asian People, 030225 pediatrics, Humans, Medicine, Genetic Testing, Genotyping, Genetics (clinical), Genetic testing, Newborn screening, Patient registry, medicine.diagnostic_test, business.industry, Native american, Infant, Newborn, Hispanic or Latino, medicine.disease, Infant newborn, Black or African American, 030104 developmental biology, Diverse population, Mutation, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff50681ce07432dcaf2e477ab9278931Test
https://doi.org/10.1038/gim.2016.48Test -
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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: Curtis J. Palm, Wenyi Wang, Curt Scharfe, Ronald W. Davis, Lynn Pique, Thomas Klopstock, Terence P. Speed, Rita Horvath, Iris Schrijver, Michael N. Mindrinos, David J. Cutler, Peidong Shen, Sreedevi Thiyagarajan, Shengrong Lin
المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: Nucleic Acids Research
مصطلحات موضوعية: Quality Control, False discovery rate, Mitochondrial DNA, Mitochondrial Diseases, Sequence analysis, Mitochondrial disease, Molecular Sequence Data, Biology, Polymorphism, Single Nucleotide, Genome, 03 medical and health sciences, 0302 clinical medicine, INDEL Mutation, MUTYH, Genetics, medicine, Humans, Oligonucleotide Array Sequence Analysis, 030304 developmental biology, 0303 health sciences, Base Sequence, Computational Biology, Genetic Variation, Sequence Analysis, DNA, medicine.disease, 3. Good health, Data Interpretation, Statistical, DNA mismatch repair, False positive rate, Algorithms, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e402cc4ce2b74862c9395b06c3f42c9Test
https://doi.org/10.1093/nar/gkq750Test -
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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: Marzia Pasquali, Renata C. Gallagher, Nicola Longo, Gary K. Steinberg, Tina M. Cowan, Lynn Pique, Hannes Vogel, Gary L. Hedlund, Iris Schrijver, Sharon L. Ernst, Gregory M. Enns
المصدر: American Journal of Medical Genetics Part A. :361-367
مصطلحات موضوعية: medicine.medical_specialty, RNA, Transfer, Leu, Mitochondrial disease, Biology, Acyl-CoA Dehydrogenase, Atrophy, Internal medicine, MELAS Syndrome, Genetics, medicine, Humans, Point Mutation, Child, Myopathy, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, Cortical blindness, Vascular disease, Brain, Metabolic acidosis, medicine.disease, Endocrinology, Cerebrovascular Circulation, Lactic acidosis, Female, medicine.symptom, Magnetic Resonance Angiography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35b4d1bbe1f37a3257a7f95536e75ce7Test
https://doi.org/10.1002/ajmg.a.31841Test -
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المؤلفون: Iris, Schrijver, Lynn, Pique, Steve, Graham, Michelle, Pearl, Athena, Cherry, Martin, Kharrazi
المصدر: The Journal of molecular diagnostics : JMD. 18(1)
مصطلحات موضوعية: Base Sequence, Cystic Fibrosis, Genotyping Techniques, Infant, Newborn, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Variation, Hispanic or Latino, Sequence Analysis, DNA, United States, White People, Black or African American, Cross-Sectional Studies, Asian People, Gene Frequency, Molecular Diagnostic Techniques, Mutation, Humans, Genetic Testing, Multiplex Polymerase Chain Reaction, Alleles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::cf6ac05aabcab962ab164a8c945bc1f3Test
https://pubmed.ncbi.nlm.nih.gov/26708955Test