-
1
المؤلفون: Jan Posadka, Charles F. Towne, Pengfei Liu, Pavel Seeman, Mehrdad Khajavi, Antoon Vandenberghe, Lionel Van Maldergem, Marian A. J. Weterman, K.-H. Krause, Feng Zhang, Francesc Palau, James R. Lupski, Claudia Gonzaga-Jauregui, Vincent Timmerman, Bernd Rautenstrauss, Els De Vriendt, Sat Dev Batish, Frank Baas, Peter De Jonghe
المساهمون: ANS - Amsterdam Neuroscience, CCA -Cancer Center Amsterdam, Human Genetics, Neurology, Genome Analysis
المصدر: The American journal of human genetics
American journal of human genetics, 86(6), 892-903. Cell Pressمصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Non-allelic homologous recombination, Biology, Genome, Translocation, Genetic, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Missing heritability problem, Charcot-Marie-Tooth Disease, Gene Duplication, Gene duplication, Genetics, Humans, Paralysis, Genetics(clinical), Copy-number variation, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Comparative Genomic Hybridization, Breakpoint, 3. Good health, Human medicine, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, Gene Deletion, Myelin Proteins, Comparative genomic hybridization, Chromosomes, Human, Pair 17
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c09c5dce8003a20f88fb08cab7ddcd3bTest
https://pubmed.ncbi.nlm.nih.gov/20493460Test -
2
المؤلفون: Antoon Vandenberghe, Eva Nelis, André Dautigny, Christine Van Broeckhoven, Jean-Jacques Martin, Peter De Jonghe, Vincent Timmerman, Danielle Pham-Dinh
المصدر: Human genetics
مصطلحات موضوعية: Silent mutation, Genetics, Polymorphism, Genetic, Base Sequence, Myelin protein zero, Nonsense mutation, Molecular Sequence Data, Biology, Molecular biology, Exon, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Gene duplication, Mutation, Missense mutation, Humans, Human medicine, Gene, Myelin P0 Protein, Genetics (clinical), Myelin Proteins, Polymorphism, Single-Stranded Conformational
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77fbbc8991b147fbb2cd9e5c697b6b7aTest
https://pubmed.ncbi.nlm.nih.gov/7527371Test -
3
المؤلفون: C. Van Broeckhoven, Antoon Vandenberghe, G. Van Camp
المصدر: Human genetics
مصطلحات موضوعية: Genetics, Chromosomes, Human, Pair 21, Hybridization probe, Locus (genetics), Biology, Cosmids, Human genetics, Deoxyribonuclease HpaII, Blotting, Southern, Gene mapping, Gene Frequency, Alzheimer Disease, Cosmid, Humans, Human medicine, Restriction fragment length polymorphism, Allele, DNA Probes, Deoxyribonucleases, Type II Site-Specific, Allele frequency, Genetics (clinical), Alleles, Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::561e52fc94388ce1cae22d07625f74a9Test
https://pubmed.ncbi.nlm.nih.gov/1694162Test -
4
المؤلفون: Antoon Vandenberghe, A. Wehnert, J. J. Martin, W. Van Hul, G. Van Camp, C. Van Broeckhoven, H Backhovens, G. De Winter, J. Gheuens, Piet Stinissen, Marc Bruyland, P Raeymaekers
المصدر: Neuropsychopharmacology ISBN: 9783642740367
Neuropsychopharmacology / Bunney, W.E. [edit.]مصطلحات موضوعية: business.industry, Hippocampus, Pedigree chart, Autopsy, Disease, medicine.anatomical_structure, Cerebral cortex, Genetic marker, Immunology, Medicine, Human medicine, Senile plaques, Family history, business, Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2726cac7c4884c90f5c4cffe54fbee0fTest
https://doi.org/10.1007/978-3-642-74034-3_9Test -
5
المصدر: Nucleic acids research
مصطلحات موضوعية: Genetics, Base Sequence, Chromosomes, Human, Pair 21, Inverse polymerase chain reaction, Molecular Sequence Data, Locus (genetics), Biology, Polymerase Chain Reaction, Molecular biology, law.invention, Terminal restriction fragment length polymorphism, law, Cleaved amplified polymorphic sequence, Humans, Amplified fragment length polymorphism, Human medicine, Restriction fragment length polymorphism, Simple sequence length polymorphism, Polymorphism, Restriction Fragment Length, Polymerase chain reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595d257cf526bedf06d1b63d3b721af2Test
https://doi.org/10.1093/nar/18.12.3672Test -
6
المؤلفون: Dirk R. Van Bockstaele, M. Ramael, Greet Vanhoof, Zwi N. Berneman, Christine Van Broeckhoven, Marc E. Peetermans, Antoon Vandenberghe, Peter Raeymaekers
المصدر: FEBS letters: for the rapid publication of short reports in biochemistry, biophysics and molecular biology
مصطلحات موضوعية: Male, Somatic cell, Restriction Mapping, Cell, DNA fingerprinting, Biophysics, Biology, Development, Methylation, Biochemistry, Germline, chemistry.chemical_compound, Structural Biology, Isoschizomer, Genetics, medicine, Humans, Molecular Biology, DNA methylation, Physics, Nucleotide Mapping, DNA, Cell Biology, Spermatozoa, Chemistry, medicine.anatomical_structure, chemistry, DNA profiling, Human medicine, Hair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23c1b22f445995e3ea5079aaadefd729Test
-
7
المؤلفون: J. Gheuens, G. De Winter, H Backhovens, C. Van Broeckhoven, Antoon Vandenberghe, A. Wehnert, W. Van Hul, G. Van Camp, P Raeymaekers, Piet Stinissen
المصدر: Genetics and Alzheimer’s Disease ISBN: 9783642736490
Genetics and Alzheimers disease / Sinet, Pierre Marie [edit.]; et. alمصطلحات موضوعية: Genetics, Genetic marker, Genetic linkage, Haplotype, Locus (genetics), Pedigree chart, Human medicine, Biology, Chromosome 21, Gene, Complete linkage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7ab05c4841fe259bb932e41b8ba429bTest
https://doi.org/10.1007/978-3-642-73647-6_12Test -
8
المؤلفون: C. Van Broeckhoven, P Raeymaekers, Antoon Vandenberghe, J. Gheuens, P. De Jonghe, G. De Winter, L. Swerts, J. J. Martin
المصدر: Cytogenetics and cell genetics
مصطلحات موضوعية: Genetics, Male, Gene map, Locus (genetics), Biology, medicine.disease, Muscular Atrophy, Spinal, Degenerative disease, Genetic marker, Genetic linkage, Charcot-Marie-Tooth Disease, Chromosomes, Human, Pair 1, Chromosome regions, medicine, Humans, Female, Human medicine, Restriction fragment length polymorphism, Lod Score, Hereditary motor and sensory neuropathy, Molecular Biology, Genetics (clinical), Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe4493a72381b574a3bb5abc4dbeea77Test
https://hdl.handle.net/10067/1434450151162165141Test -
9
المؤلفون: Antoon Vandenberghe, Christine Van Broeckhoven, J. Gheuens, Ludo Muylle, Peter De Jonghe, Lorry Swerts, Jean-Jacques Martin, Peter Raeymaekers
المصدر: Journal of the neurological sciences
مصطلحات موضوعية: Genetics, Male, Genetic Linkage, Locus (genetics), Disease, Biology, medicine.disease, Pedigree, Muscular Atrophy, Spinal, Neurology, Genetic linkage, Charcot-Marie-Tooth Disease, medicine, Blood Group Antigens, Humans, Female, Human medicine, Neurology (clinical), Hereditary motor and sensory neuropathy, Duffy Blood-Group System
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e91aa28e7c9c0173fd5ed8d3df449d0cTest
https://pubmed.ncbi.nlm.nih.gov/3225617Test -
10
المؤلفون: Antoon Vandenberghe, Peter Raeymaekers, Ludo Muylle, H Backhovens, Christine Van Broeckhoven, A. Wehnert, Peter De Jonghe, J. Gheuens
المصدر: Human genetics
مصطلحات موضوعية: Genetic Markers, Male, Genetic Linkage, Locus (genetics), Biology, Muscular Atrophy, Spinal, Tooth disease, Charcot-Marie-Tooth Disease, Genetics, Humans, Spectrin, Metabolic disease, Genetics (clinical), α spectrin, Genes, Dominant, Lod score, Chromosome Mapping, Human genetics, Pedigree, Blood Group Antigens, Female, Human medicine, Restriction fragment length polymorphism, Duffy Blood-Group System, Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818c89e230018f711920ea20ffcb199aTest
https://hdl.handle.net/10067/1002070151162165141Test
