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1
المؤلفون: David Neil Cooper, Marion Zetzmann, Katharina Wimmer, Josef Högel, Hildegard Kehrer-Sawatzki, Tanja Mussotter, Julia Vogt, Victor-Felix Mautner, Lan Kluwe, Angelika C. Roehl
المصدر: Human Mutation. 33:541-550
مصطلحات موضوعية: Adult, Neurofibromatosis 1, Mitotic crossover, Adolescent, CD15, Biology, X-inactivation, CD19, Young Adult, Genetics, Humans, Child, Cells, Cultured, Genetics (clinical), X chromosome, Chromosomes, Human, X, Neurofibromin 1, Middle Aged, Hematopoietic Stem Cells, Colony-stimulating factor, Molecular biology, Haematopoiesis, biology.protein, Female, Chromosome Deletion, Stem cell
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6dc24aec017d7fefdd498a327cb5bbbTest
https://doi.org/10.1002/humu.22013Test -
2
المؤلفون: Eugen Boltshauser, Stylianos E. Antonarakis, Gaelle Perrin, Pierre Hutter, Michael A. Morris
المصدر: Human Mutation, Vol. 7, No 2 (1996) pp. 172-175
مصطلحات موضوعية: Genes, Neurofibromatosis 1/ genetics, RNA, Messenger/genetics, Neurofibromatosis 1, Adolescent, RNA Splicing, Molecular Sequence Data, Biology, Bioinformatics, Polymerase Chain Reaction, Genes, Neurofibromatosis 1, Exons/genetics, medicine, Genetics, Humans, RNA, Messenger, Neurofibromatosis, Child, Gene, Genetics (clinical), ddc:616, Neurofibromin 1, Base Sequence, Neurofibromatosis 1/ genetics, Proteins, Exons, medicine.disease, DNA Probes/chemistry, Mutation, Proteins/genetics, RNA Splicing/ genetics, RNA splicing, Electrophoresis, Polyacrylamide Gel, Female, DNA Probes, Sequence Analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4668f9eadca6e36f7cb4e6621019e91aTest
https://doi.org/10.1002Test/(sici)1098-1004(1996)7:2<172::aid-humu15>3.3.co;2-a -
3
المصدر: Human Mutation. 3:347-352
مصطلحات موضوعية: Male, Neurofibromatosis 1, Adolescent, DNA Mutational Analysis, Molecular Sequence Data, Oligonucleotides, medicine.disease_cause, Polymerase Chain Reaction, Frameshift mutation, Exon, Genes, Neurofibromatosis 1, Genotype, Genetics, medicine, Humans, Child, Frameshift Mutation, Gene, Alleles, Genetics (clinical), DNA Primers, Sequence Deletion, Mutation, Neurofibromin 1, Base Sequence, biology, Point mutation, GTPase-Activating Proteins, Nucleic Acid Heteroduplexes, Proteins, Molecular biology, Mutation testing, biology.protein, Nucleic Acid Conformation, Female, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eddc02771d9b6e8d66ae607582adcb8Test
https://doi.org/10.1002/humu.1380030404Test -
4
المؤلفون: Chia-Li Yu, Huey-Ling You, Wu-Liang Hwu, Wang-Chao Lee, Yi-Ning Su, Shinn-Chong Chiou, Li-Chu Lin, Ming-Jen Lee, Chih-Chao Yang, Fon-Jou Hsieh, Dennis A. Stephenson
المصدر: Human Mutation. 27:832-832
مصطلحات موضوعية: Adult, Male, China, Neurofibromatosis 1, Adolescent, DNA Mutational Analysis, Gene Dosage, Loss of Heterozygosity, Heteroduplex Analysis, Biology, medicine.disease_cause, Gene dosage, Cohort Studies, Loss of heterozygosity, Exon, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Neurofibromatosis, Child, Gene, Genetics (clinical), Mutation, Infant, Exons, Middle Aged, medicine.disease, Neurofibromin 1, Child, Preschool, biology.protein, Female, RNA Splice Sites, Gene Deletion, Heteroduplex
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::297bf22d79177305fb041a0d62f77a6dTest
https://doi.org/10.1002/humu.9446Test