-
1دورية أكاديميةMutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss
المؤلفون: Lynn M. Pique, Marie-Luise Brennan, Colin J. Davidson, Frederick Schaefer, John Greinwald Jr, Iris Schrijver
المصدر: PeerJ, Vol 2, p e384 (2014)
مصطلحات موضوعية: Pendred, MLPA, DFNB4, SLC26A4, FOXI1 and KCNJ10, Genotyping, Medicine, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://peerj.com/articles/384.pdfTest; https://peerj.com/articles/384Test/; https://doaj.org/toc/2167-8359Test
-
2
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 -
3
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 -
4
المصدر: Genetics in Medicine. 16:695-702
مصطلحات موضوعية: Laboratory Proficiency Testing, medicine.medical_specialty, Pathology, Canavan Disease, Population, Genomics, Disease, Sensitivity and Specificity, Dysautonomia, Familial, Prevalence, Humans, Medicine, Genetic Testing, education, Genotyping, Genetics (clinical), education.field_of_study, Tay-Sachs Disease, business.industry, Disease Management, Reproducibility of Results, medicine.disease, Confidence interval, Test (assessment), Familial dysautonomia, Health Care Surveys, Jews, Medical genetics, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a15f931d358695fe85cdff3cbaadccd1Test
https://doi.org/10.1038/gim.2014.14Test -
5
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 -
6
المؤلفون: Iris Schrijver, Marla Lay, James L. Zehnder
المصدر: American Journal of Clinical Pathology. 119:490-496
مصطلحات موضوعية: Factor V, Single-nucleotide polymorphism, General Medicine, Biology, Amplicon, medicine.disease, Roche Diagnostics, Molecular biology, law.invention, law, Factor V Leiden, medicine, biology.protein, Restriction fragment length polymorphism, Genotyping, Polymerase chain reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f02e7eb4f85cb9dfbcce38501324af99Test
https://doi.org/10.1309/3vtr7tl2x7txl0qyTest -
7Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss
المؤلفون: Marie-Luise Brennan, Lynn Pique, Colin J. Davidson, John H. Greinwald, Iris Schrijver, Frederick V. Schaefer
المصدر: PeerJ, Vol 2, p e384 (2014)
PeerJمصطلحات موضوعية: Nonsynonymous substitution, Proband, Genotyping, FOXI1 and KCNJ10, lcsh:Medicine, KCNJ10, Congenital hearing loss, medicine.disease_cause, Bioinformatics, Pediatrics, General Biochemistry, Genetics and Molecular Biology, SNHL, Genetics, Pathology, medicine, otorhinolaryngologic diseases, SLC26A4, DFNB4, Multiplex ligation-dependent probe amplification, Pendred syndrome, Mutation, biology, General Neuroscience, Pendred, lcsh:R, General Medicine, medicine.disease, MLPA, Otorhinolaryngology, biology.protein, Sensorineural hearing loss, General Agricultural and Biological Sciences, Medical Genetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c91b4f2f9cf0f02364ee4a2b34a930Test
https://peerj.com/articles/384.pdfTest -
8
المؤلفون: Kitchener D. Wilson, Iris Schrijver
المصدر: Molecular Testing in Cancer ISBN: 9781489980496
مصطلحات موضوعية: Molecular complexity, DNA sequencer, medicine.medical_specialty, Germline mutation, Molecular pathology, business.industry, Cancer genome, Cytogenetics, Snapshot (computer storage), Medicine, business, Bioinformatics, Genotyping
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f2b5c73140ad3fe1cc0d170d29bf5cb1Test
https://doi.org/10.1007/978-1-4899-8050-2_1Test -
9
المؤلفون: Lynn Pique, Joseph B. Roberson, Tahl Y. Colen, Juan Rodriguez-Paris, Iris Schrijver, Phyllis Gardner
المصدر: PLoS ONE, Vol 5, Iss 7, p e11804 (2010)
PLoS ONEمصطلحات موضوعية: Microarray, Genotype, Hearing loss, Anion Transport Proteins, Pediatrics and Child Health, lcsh:Medicine, medicine.disease_cause, Primer extension, Connexins, medicine, otorhinolaryngologic diseases, Humans, Hearing Loss, lcsh:Science, Genotyping, Genetics and Genomics/Genetics of Disease, Oligonucleotide Array Sequence Analysis, Genetics, Genetics and Genomics/Medical Genetics, Mutation, Multidisciplinary, biology, lcsh:R, Genetics and Genomics, Connexin 26, Sulfate Transporters, biology.protein, lcsh:Q, DNA microarray, medicine.symptom, GJB6, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f3c5b48395e1752ba5ffbfdf7a3a70fTest
http://europepmc.org/articles/PMC2909915?pdf=renderTest -
10
المؤلفون: Phyllis Gardner, Iris Schrijver, Morris Fiddler, Eugene Pergament, Maigi Külm
المصدر: The Journal of molecular diagnostics : JMD. 9(2)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Population, Familial Mediterranean fever, Biology, Pathology and Forensic Medicine, Torsion dystonia, Fanconi anemia, medicine, Humans, Genetic Testing, education, Genotyping, Genetic testing, DNA Primers, Oligonucleotide Array Sequence Analysis, Genetics, Adenosine Triphosphatases, education.field_of_study, Polymorphism, Genetic, medicine.diagnostic_test, Base Sequence, RecQ Helicases, Genome, Human, DNA Helicases, nutritional and metabolic diseases, medicine.disease, Jews, Pseudodeficiency alleles, Mutation, Molecular Medicine, Mucolipidosis type IV, Transcriptional Elongation Factors, Carrier Proteins, Regular Articles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::441efbbb4b50991cee3ad1dbad71ba3aTest
https://pubmed.ncbi.nlm.nih.gov/17384215Test