-
1
المؤلفون: Gloria Hsi, Diane W. Cox
المصدر: Human Genetics. 114:165-172
مصطلحات موضوعية: Databases, Factual, Recombinant Fusion Proteins, ATP7A, Sequence alignment, Biology, medicine.disease_cause, Hepatolenticular Degeneration, Genetics, medicine, Humans, Missense mutation, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Genetics (clinical), Adenosine Triphosphatases, Mutation, Mutation Spectra, Point mutation, medicine.disease, Transmembrane domain, Copper-Transporting ATPases, Menkes disease, Sequence Alignment, Copper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7204bb3efcc9da0c78354a159648656cTest
https://doi.org/10.1007/s00439-003-1045-yTest -
2
المؤلفون: Z, Tumer, N, Horn, T, Tonnesen, J, Christodoulou, J T R, Clarke, B, Sarkar
المصدر: Human genetics. 114(6)
مصطلحات موضوعية: Adenosine Triphosphatases, Base Sequence, Copper-Transporting ATPases, Recombinant Fusion Proteins, Humans, Codon, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Sequence Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::28688f68a3232164dcabed8d6ff56f31Test
https://pubmed.ncbi.nlm.nih.gov/15176369Test -
3
المصدر: Human genetics. 96(3)
مصطلحات موضوعية: Male, Heterozygote, X Chromosome, Genetic Linkage, Recombinant Fusion Proteins, ATP7A, Molecular Sequence Data, Biology, Polymerase Chain Reaction, Cutis Laxa, Loss of heterozygosity, Gene mapping, Genetics, medicine, Humans, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Genetics (clinical), X chromosome, DNA Primers, Repetitive Sequences, Nucleic Acid, Adenosine Triphosphatases, Polymorphism, Genetic, Base Sequence, Chromosome Mapping, medicine.disease, Pedigree, Phenotype, Genetic marker, Copper-Transporting ATPases, Menkes disease, Menkes' syndrome, Carrier Proteins, Cutis laxa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e403f279b9b0608e36440ffcf7554a9bTest
https://pubmed.ncbi.nlm.nih.gov/7649557Test -
4
المؤلفون: T Tønnesen, N Horn, W. J. Kleijer
المصدر: Human genetics. 86(4)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, X Chromosome, Incidence (epidemiology), Denmark, Incidence, Germany, West, Infant, Newborn, Biology, medicine.disease, United Kingdom, West germany, Epidemiology, Genetics, medicine, Humans, Menkes disease, France, Metabolic disease, Menkes' syndrome, Menkes Kinky Hair Syndrome, Genetics (clinical), Rare disease, Netherlands
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58b273717b410c11ecd802c76c888e33Test
https://pubmed.ncbi.nlm.nih.gov/1999344Test -
5
المؤلفون: David R. Cox, R. D. Palmiter
المصدر: Human Genetics. 64:61-64
مصطلحات موضوعية: Male, X Chromosome, Hybrid Cells, Gene mutation, Biology, medicine.disease_cause, Chromosomes, Mice, Cricetulus, Cricetinae, Metalloproteins, Genetics, medicine, Animals, Humans, RNA, Messenger, Menkes Kinky Hair Syndrome, Genetics (clinical), X chromosome, Mutation, Gene map, Brain Diseases, Metabolic, Structural gene, Chromosome Mapping, Chromosome, Karyotype, DNA, medicine.disease, Molecular biology, Clone Cells, Genes, Female, Metallothionein, Menkes disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66c45432f76d3c4cb3d2a3d4901447deTest
https://doi.org/10.1007/bf00289481Test -
6
المؤلفون: N. Horn, Peter Wieacker, H. H. Ropers, Peter L. Pearson, E. McKay, Thomas F. Wienker
المصدر: Human Genetics. 64:139-142
مصطلحات موضوعية: Genetic Markers, Male, X Chromosome, Genetic Linkage, Biology, Restriction fragment, Gene mapping, Genetic linkage, Centromere, Genetics, medicine, Humans, Crossing Over, Genetic, Menkes Kinky Hair Syndrome, Alleles, Sex Chromosome Aberrations, Genetics (clinical), X chromosome, Polymorphism, Genetic, Brain Diseases, Metabolic, DNA, medicine.disease, Molecular biology, Pedigree, Genes, Genetic marker, biology.protein, Female, Menkes disease, Restriction fragment length polymorphism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1d8b8a0372876cfac8e38638162ada8Test
https://doi.org/10.1007/bf00327110Test -
7
المؤلفون: Peter Wieacker, H. H. Ropers, Thomas F. Wienker, H. J. Cooke, N. Horn
المصدر: Human Genetics. 65:72-73
مصطلحات موضوعية: Genetic Markers, Male, Genetics, X Chromosome, Brain Diseases, Metabolic, Genetic Linkage, Chromosome Mapping, Locus (genetics), Biology, Molecular medicine, Human genetics, Pedigree, Humans, Female, Lod Score, Menkes Kinky Hair Syndrome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::365f62038bf0a9bcb5c81c98b5f6f10eTest
https://doi.org/10.1007/bf00285032Test