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1
المؤلفون: Ludwine Messiaen, Conxi Lázaro, Eduard Serra, Chuanhua Fu, Kathrin Bengesser, Fady M. Mikhail, Hildegard Kehrer-Sawatzki, Carles Garcia-Linares, Julia Vogt, David Neil Cooper
المصدر: Human Mutation. 32:213-219
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Non-allelic homologous recombination, Germline mosaicism, Biology, medicine.disease_cause, Young Adult, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Neurofibromatosis, Child, Genetics (clinical), Mutation, Mosaicism, Breakpoint, Low copy repeats, Middle Aged, medicine.disease, Molecular biology, Female, Gene Deletion, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb042369b128ffb13a69a2298a736cc4Test
https://doi.org/10.1002/humu.21418Test -
2
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 -
3
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 -
4
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 -
5
المؤلفون: Assumpció Bosch, Xavier Estivill, Conxi Lázaro, Isabel Banchs, Anna Puig, Jordi Guimerà
المصدر: Universitat Autònoma de Barcelona
مصطلحات موضوعية: Adult, Genetic Markers, Male, Mutation rate, Databases, Factual, Chromosomes, Human, Pair 21, Somatic cell, DNA Mutational Analysis, Mothers, Locus (genetics), DNA, Satellite, Biology, Polymerase Chain Reaction, Phospholipases A, Germline, Cell Line, Fathers, Germline mutation, Gene Frequency, Genes, Neurofibromatosis 1, von Willebrand Factor, Genetics, Humans, Lymphocytes, Allele, Mutation frequency, Child, Pancreas, Alleles, Germ-Line Mutation, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Molecular Epidemiology, Chromosomes, Human, Pair 12, Polymorphism, Genetic, Chromosome Mapping, Molecular biology, Pedigree, Mutation, Microsatellite, Female, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9065375df516ddbc70ceafc684e9c511Test
https://doi.org/10.1002/humu.1380030407Test -
6
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