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1
المؤلفون: Karen P. Steel, Xue Zhong Liu, Stephen D.M. Brown, Valerie Newton
المصدر: Human Mutation. 10:168-170
مصطلحات موضوعية: Genetics, Retinitis pigmentosa, Mutation (genetic algorithm), Myosin, New mutation, Usher Syndrome Type 1, Posterior region, medicine, Biology, medicine.disease, Genetics (clinical), Frameshift mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6f47571e8e2c6c663dd58a1172c4f0fdTest
https://doi.org/10.1002Test/(sici)1098-1004(1997)10:2<168::aid-humu10>3.0.co;2-y -
2
المؤلفون: Manuel Molina, Carlos Reig, Miguel Carballo, Ana-Isabel Alvarez, Esteban Arostegui, Isabel Tejada, Jaume Antich, Rosa Martin
المصدر: Human Mutation. 8:93-94
مصطلحات موضوعية: Male, Genetics, Rhodopsin, RNA Splicing, Intron, Rhodopsin Gene, Biology, medicine.disease, Acceptor, Autosomal dominant retinitis pigmentosa, Introns, Pedigree, Spain, Locus heterogeneity, Mutation, RNA splicing, New mutation, medicine, Humans, Female, Retinitis Pigmentosa, Genetics (clinical), Genes, Dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e269e0b199f6bb7ad325f150aab1838dTest
https://doi.org/10.1002Test/(sici)1098-1004(1996)8:1<93::aid-humu17>3.3.co;2-q -
3
المؤلفون: Johan T. den Dunnen, Gert-Jan B. van Ommen
المصدر: Human Mutation. 14:95
مصطلحات موضوعية: Genetics, Mutation, RNA, Protein Truncation, Biology, medicine.disease_cause, DNA sequencing, chemistry.chemical_compound, chemistry, New mutation, medicine, Allele, DNA, Genetics (clinical), Sequence (medicine)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5339fe0fd33ec52800a53c33b18ebcd6Test
https://doi.org/10.1002Test/(sici)1098-1004(1999)14:2<95::aid-humu1>3.3.co;2-7 -
4
المؤلفون: Heimo Breiteneder, R. Möslinger, Teresa Wagner, Peter Devilee, Otto Scheiner
المصدر: Human Mutation. 11:S323-S323
مصطلحات موضوعية: Genetics, New mutation, Biology, Genetics (clinical), Brca1 gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aac3e20e3dbce1f733b093a8c0cfa055Test
https://doi.org/10.1002/humu.13801101101Test -
5
المؤلفون: Stefano Regis, Raffaella Mazzotti, Rosanna Gatti, Marina Stroppiano
المصدر: Human Mutation. 11:S329-S329
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Internal medicine, New mutation, Genetics, medicine, Biology, Genetics (clinical), Glycogen storage disease type Ia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f3588ebc3f436d696f2b738d14d6acccTest
https://doi.org/10.1002/humu.13801101109Test -
6
المؤلفون: H. Glenn Wolfe, D. L. Coleman
المصدر: Genetical Research. 5:432-440
مصطلحات موضوعية: Melanin, TheoryofComputation_ANALYSISOFALGORITHMSANDPROBLEMCOMPLEXITY, Hair shaft, New mutation, Genetics, White Spots, General Medicine, Biology, Molecular biology, Club hairs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e39c86e30a7a8a94d56896fe2c2c7ad5Test
https://doi.org/10.1017/s001667230003487xTest