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المؤلفون: Robert Morell, Wadih M. Zein, Carmen C. Brewer, Andrew J. Griffith, Julie M. Schultz, Kelly A. King, Christopher K. Zalewski, Thomas B. Friedman, Julie A. Muskett, Rizwan Yousaf, Talah T Wafa, Rabia Faridi, Amy Turriff, Ekaterini Tsilo
مصطلحات موضوعية: Vestibular system, Oncology, Correlation, medicine.medical_specialty, business.industry, Usher syndrome, Internal medicine, Cohort, medicine, Phenotype genotype, medicine.disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7663b036a019d8b7da9a904659dd7b9e
https://doi.org/10.1111/cge.13868/v2/response1 -
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المؤلفون: Robert Morell
المصدر: American Journal of Sociology. 112:333-336
مصطلحات موضوعية: Sociology and Political Science, State (polity), media_common.quotation_subject, Human sexuality, Art, Religious studies, Theology, media_common
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::57155215d6b4dda6918ba789f2b8213e
https://doi.org/10.1086/507814 -
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المؤلفون: L. Ho, Richard A. Spritz, Robert Morell, Thomas B. Friedman, James H. Asher, J. Pierpont, W. Guo
المصدر: Human Molecular Genetics. 6:659-664
مصطلحات موضوعية: Male, Ocular albinism, Molecular Sequence Data, Genes, Recessive, Deafness, Biology, Compound heterozygosity, Genetics, medicine, Humans, Waardenburg Syndrome, Allele, Waardenburg Syndrome Type 1, Molecular Biology, Genetics (clinical), Microphthalmia-Associated Transcription Factor, Polymorphism, Genetic, Base Sequence, Monophenol Monooxygenase, Waardenburg syndrome, General Medicine, Albinism, Ocular, medicine.disease, Microphthalmia-associated transcription factor, Oculocutaneous albinism, Pedigree, DNA-Binding Proteins, Iris Diseases, Mutation, Albinism, Female, Pigmentation Disorders, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe7a355cec18042df4a41744a13c185
https://doi.org/10.1093/hmg/6.5.659 -
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المصدر: Human Heredity. 47:38-41
مصطلحات موضوعية: Genetics, Proband, Waardenburg syndrome, PAX3, Biology, medicine.disease, Exon, genomic DNA, medicine, Homeobox, Homeotic gene, Waardenburg Syndrome Type 1, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::584f9e9f484d12f1c618671a3571b627
https://doi.org/10.1159/000154387 -
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المصدر: Genomics. 34:285-298
مصطلحات موضوعية: Male, Heterozygote, X Chromosome, Genotype, Molecular Sequence Data, Biology, Gene mutation, medicine.disease_cause, Polymerase Chain Reaction, Mice, Gene interaction, Genetics, medicine, Animals, Humans, Paired Box Transcription Factors, Waardenburg Syndrome, Allele, Waardenburg Syndrome Type 1, PAX3 Transcription Factor, Alleles, Crosses, Genetic, DNA Primers, Sex Characteristics, Mutation, Base Sequence, Waardenburg syndrome, Skull, Genetic Variation, medicine.disease, Penetrance, Mice, Mutant Strains, DNA-Binding Proteins, Mice, Inbred C57BL, White (mutation), Disease Models, Animal, Phenotype, Face, Female, Pigmentation Disorders, Transcription Factors
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المؤلفون: Robert Morell, Thomas B. Friedman, Annemarie Sommer, James H. Asher
المصدر: Human Mutation. 7:30-35
مصطلحات موضوعية: Genetics, Waardenburg syndrome, Nonsense mutation, Pax genes, Biology, medicine.disease, Molecular biology, Frameshift mutation, medicine, Missense mutation, Hypertelorism, medicine.symptom, Transversion, Waardenburg Syndrome Type 1, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eee7589842b6e5c15cd571c08fc288dd
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.0.co;2-t -
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المؤلفون: James H. Asher, Annemarie Sommer, Robert Morell, Thomas B. Friedman
المصدر: Human Mutation. 7:30-35
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::74bcf57eb86aa55fd43889399e2d460f
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.3.co;2-h -
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المؤلفون: Sunaryana Winata, Yong Liang, I. Nyomen Arhya, Robert Morell, John T. Hinnant, James H. Asher, James L. Weber, Thomas B. Friedman
المصدر: Human Molecular Genetics. 4:85-91
مصطلحات موضوعية: Genetic Markers, Genetics, Hardy-Weinberg Distribution, education.field_of_study, Genetic diversity, Population, Population genetics, General Medicine, Biology, Gene Frequency, Indonesia, Genotype, Humans, Microsatellite, Allele, education, Molecular Biology, Allele frequency, Alleles, Genetics (clinical), Repetitive Sequences, Nucleic Acid
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc45de3b2f972fb823e8df998d11e67
https://doi.org/10.1093/hmg/4.1.85 -
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المؤلفون: Sukarti Moeljopawiro, Robert Morell, Thomas B. Friedman, Soewito, Hartono, James H. Asher
المصدر: Human Molecular Genetics. 1:243-247
مصطلحات موضوعية: Male, Molecular Sequence Data, Biology, medicine.disease_cause, Frameshift mutation, Mice, Exon, Species Specificity, Genetics, medicine, Animals, Humans, Waardenburg Syndrome, Amino Acid Sequence, Frameshift Mutation, Waardenburg Syndrome Type 1, Molecular Biology, Gene, Conserved Sequence, Genetics (clinical), Mutation, Base Sequence, Waardenburg syndrome, DNA, General Medicine, medicine.disease, Phenotype, Pedigree, Indonesia, Female, Binding domain
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dbfcdfdded1c40a6fe659711a7a2851
https://doi.org/10.1093/hmg/1.4.243 -
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