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1دورية أكاديمية
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2دورية أكاديمية
المؤلفون: Françoise Denoyelle, Dominique Weil, Marion A. Maw, Stephen A. Wilcox, Nicholas J. Lench, Denise R. Allen-powell, Amelia H. Osborn, Hans-henrik M. Dahl, Anna Middleton, Mark J. Houseman, Catherine Dodé, Rine Marlin, Amel Boulila-elgaïed, Mohammed Grati, Hammadi Ayadi, Jacqueline Levilliers, Éréa-noël Garabédian, Robert F. Mueller, R. J. Mckinlay Gardner, Christine Petit
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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المؤلفون: Natalie J. Prescott, Elizabeth Bentley, Paul Rutland, Brandon J. Wainwright, John Nelson, Bronwyn Kerr, Susan M. Darling, Vile Makela, Robert F. Mueller, Shalini Jadeja, Christine Francannet, Lesley M McGregor, Antonio Perez-Aytes, Emma Roberts, André Mégarbané, Jason Hopkins, Sofia Vrontou, Adrian S. Woolf, Alison Shaw, Nicole Philip, Nicola Smart, Robin M. Winter, Georges Chalepakis, Peter J. Scambler, Catherine Roberts
مصطلحات موضوعية: Male, Cryptophthalmos, DNA Mutational Analysis, Molecular Sequence Data, Mice, Inbred Strains, Locus (genetics), Biology, Frameshift mutation, Mice, Blister, Genetics, medicine, Animals, Humans, Fraser syndrome, Extracellular Matrix Proteins, Base Sequence, Genetic heterogeneity, DNA, Denys-Drash Syndrome, medicine.disease, Molecular biology, Phenotype, Mice, Mutant Strains, Pedigree, Disease Models, Animal, Mutation testing, FRAS1, Female, Chromosomes, Human, Pair 4
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833c0b6f42fd08a3c2eba17bfad55cf0Test
https://ora.ox.ac.uk/objects/uuid:eb05386f-688d-4290-b079-8a0fb29df60fTest -
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المؤلفون: Têmis Maria Félix, Benjamin C. Hanshaw, Pierre Bitoun, Robert F. Mueller, Jeffrey C. Murray
المصدر: American Journal of Medical Genetics Part A. :2110-2114
مصطلحات موضوعية: Male, Cleft Lip, Philippines, Population, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Exon, CHARGE syndrome, Genetics, medicine, Humans, Point Mutation, Coding region, Abnormalities, Multiple, education, Gene, Genetics (clinical), Genetic association, education.field_of_study, DNA Helicases, Exons, Syndrome, Anatomy, medicine.disease, Iowa, Cleft Palate, DNA-Binding Proteins, Amino Acid Substitution, Case-Control Studies, Etiology, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21133ca9b074d43f022c12418a67a510Test
https://doi.org/10.1002/ajmg.a.31308Test -
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المؤلفون: E L Coghill, Maria Bitner-Glindzicz, N. N. Coy, H E Conlon, Robert F. Mueller, Tim P Hutchin, Elizabeth A.R. Telford, Sara J. Brown, Xue Zhong Liu, Diana C. Blaydon, Graham R. Taylor, K. Bromelow, Richard C. Trembath
المصدر: Clinical Genetics. 68:506-512
مصطلحات موضوعية: Genetics, Mutation, education.field_of_study, medicine.diagnostic_test, Hearing loss, Genetic counseling, Population, Biology, medicine.disease_cause, Autosomal recessive trait, otorhinolaryngologic diseases, medicine, Etiology, medicine.symptom, education, Gene, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a1189a926aaac80596282fa5a91b1e3cTest
https://doi.org/10.1111/j.1399-0004.2005.00539.xTest -
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المؤلفون: Alan C. Bird, Bart Leroy, Shomi S. Bhattacharya, S Malcolm, TP Hutchin, Diana C. Blaydon, Robert F. Mueller, Maria Bitner-Glindzicz
المصدر: Clinical Genetics. 63:303-307
مصطلحات موضوعية: Genetics, Mutation, medicine.diagnostic_test, Usher syndrome, Haplotype, Usher Syndrome Type 1, Single-nucleotide polymorphism, Consanguinity, Biology, medicine.disease, medicine.disease_cause, Genetic determinism, otorhinolaryngologic diseases, medicine, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::57a1a346087a204cf94975d551b071d4Test
https://doi.org/10.1034/j.1399-0004.2003.00058.xTest -
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المؤلفون: Glenn E. Green, Moien Kanaan, Robert F. Mueller, Edward S. Cohn, Karen B. Avraham, Richard J.H. Smith
المصدر: Audiological Medicine. 1:5-11
مصطلحات موضوعية: Speech and Hearing, medicine.medical_specialty, business.industry, medicine, Connexin, Audiology, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::169bea84bc331a8f980988d1fc2f235dTest
https://doi.org/10.1080/16513860310003021Test -
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المؤلفون: Elizabeth A.R. Telford, Tim P Hutchin, Robert F. Mueller
المصدر: Audiological Medicine. 1:12-20
مصطلحات موضوعية: Genetics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Audiology, Speech and Hearing, medicine.anatomical_structure, otorhinolaryngologic diseases, medicine, Inner ear, Routine clinical practice, sense organs, business, Gene, Non syndromic, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a35191e7541bde3186ffe57aa8e99512Test
https://doi.org/10.1080/16513860310003030Test -
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المؤلفون: S Arbuzova, Howard Cuckle, I Sehmi, Robert F. Mueller
المصدر: Clinical Genetics. 60:456-462
مصطلحات موضوعية: Genetics, Down syndrome, Mitochondrial DNA, Extranuclear inheritance, Aneuploidy, Family aggregation, Pedigree chart, Biology, medicine.disease, medicine, Genomic imprinting, Trisomy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ceb20995fcb98e7cc0313e6ca571acb7Test
https://doi.org/10.1034/j.1399-0004.2001.600609.xTest -
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المؤلفون: Robert F. Mueller, Jenny Hewison, Anna Middleton
المصدر: Journal of Genetic Counseling. 10:121-131
مصطلحات موضوعية: Parents, medicine.medical_specialty, Genetic counseling, Genetic Counseling, Prenatal diagnosis, Deafness, Audiology, Prenatal Diagnosis, Surveys and Questionnaires, otorhinolaryngologic diseases, medicine, Humans, Genetic Testing, Genetics (clinical), Genetic testing, Motivation, Pregnancy, medicine.diagnostic_test, business.industry, Data Collection, Public health, medicine.disease, United Kingdom, Human genetics, Persons With Hearing Impairments, business, Attitude to Health, Abortion, Eugenic, Hearing.status
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76c185d12339bc3528b6f18d61feb3e6Test
https://doi.org/10.1023/a:1009439630457Test