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1
المؤلفون: M L, Huie, J S, Kasper, P H, Arn, C R, Greenberg, R, Hirschhorn
المصدر: American journal of medical genetics. 85(1)
مصطلحات موضوعية: Male, Base Sequence, Glycogen Storage Disease Type II, Cleft Lip, Infant, Newborn, Infant, Syndrome, Pedigree, Cleft Palate, Mutation, Humans, Female, Gene Deletion, DNA Primers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::25dbf35b1273412edb223746bdbd47d8Test
https://pubmed.ncbi.nlm.nih.gov/10377006Test -
2
المؤلفون: Charles E. Schwartz, Margaret R. Wallace, C. R. Abernathy, V. T. Ho, Steven D. Colman, L Weiss, Sonja A. Rasmussen, Robert A. Saul, P H Arn
المصدر: Journal of medical genetics. 35(6)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Genotype, Centromere, Biology, medicine.disease_cause, Polymerase Chain Reaction, Genetic determinism, Nuclear Family, Loss of heterozygosity, Exon, Intellectual Disability, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Allele, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Mutation, Mosaicism, Chromosome, Exons, Telomere, medicine.disease, eye diseases, Introns, nervous system diseases, Pedigree, Female, Gene Deletion, Polymorphism, Restriction Fragment Length, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::033bcb0a084a2d19a8e84af8cf33a2f7Test
https://pubmed.ncbi.nlm.nih.gov/9643287Test -
3
المؤلفون: P H, Arn, C A, Williams, R T, Zori, D J, Driscoll, D S, Rosenblatt
المصدر: American journal of medical genetics. 77(3)
مصطلحات موضوعية: Diagnosis, Differential, Male, Oxidoreductases Acting on CH-NH Group Donors, Vitamin B 12, Methionine, Phenotype, Humans, Homocystinuria, Angelman Syndrome, Child, Homocysteine, Metabolism, Inborn Errors, Methylenetetrahydrofolate Reductase (NADPH2)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f453b4a57d26178d407c9841dc2cb832Test
https://pubmed.ncbi.nlm.nih.gov/9605586Test -
4
المصدر: Molecular biologymedicine. 7(4)
مصطلحات موضوعية: Heterochromatin, Centromere, Chromosomes, Human, Humans, DNA, DNA Restriction Enzymes, Azure Stains, Chromosome Banding, Repetitive Sequences, Nucleic Acid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::26eee79ed7288e7015cb74c468d67006Test
https://pubmed.ncbi.nlm.nih.gov/2172691Test -
5
المؤلفون: P H, Arn, A A, Ketabgian, C, Smith, D C, Schwartz, E W, Jabs
المصدر: Progress in clinical and biological research. 318
مصطلحات موضوعية: Electrophoresis, Base Sequence, Centromere, Humans, DNA, Satellite, Chromosomes, Polymorphism, Restriction Fragment Length, Repetitive Sequences, Nucleic Acid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b38f57fea538646aef41d3591450d719Test
https://pubmed.ncbi.nlm.nih.gov/2576308Test