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1
المؤلفون: I. H. Pawlowitzki, W. Holzgreve, H. Gröbe
المصدر: Clinical Genetics. 15:167-170
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Chromosomes, Human, 19-20, Infant, Trisomy, Chromosomal translocation, macromolecular substances, Biology, Gene Localization, Long arm, medicine.disease, Translocation, Genetic, Chromosome Banding, Endocrinology, Internal medicine, medicine, Humans, Abnormalities, Multiple, Female, Chromosome 20, Genetics (clinical), Chromosomes, Human, 16-18
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2
المؤلفون: I. H. Pawlowitzki, B. Wieringa, Frans P.M. Cremers, Wolfgang Berger, E. P. M. van Kerkhoff, F. Brunsmann, T.J.R. van de Pol, H.-H. Ropers
المصدر: Human Genetics. 86:61-64
مصطلحات موضوعية: Male, Restriction Mapping, EcoRI, Molecular cloning, Biology, Choroideremia, Deoxyribonuclease EcoRI, chemistry.chemical_compound, Genetics, medicine, Humans, Cloning, Molecular, Gene, Genetics (clinical), Cloning, Genetic Carrier Screening, Breakpoint, medicine.disease, Molecular biology, Human genetics, Pedigree, Blotting, Southern, chemistry, biology.protein, Female, Chromosome Deletion, Polymorphism, Restriction Fragment Length, DNA
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3
المؤلفون: J A, van den Hurk, M, Schwartz, H, van Bokhoven, T J, van de Pol, L, Bogerd, A J, Pinckers, E M, Bleeker-Wagemakers, I H, Pawlowitzki, K, Rüther, H H, Ropers, F P, Cremers
المصدر: Human mutation. 9(2)
مصطلحات موضوعية: Male, Alkyl and Aryl Transferases, Polymorphism, Genetic, X Chromosome, Genetic Linkage, Translocation, Genetic, rab GTP-Binding Proteins, Mutation, Humans, Point Mutation, Female, Carrier Proteins, Frameshift Mutation, Choroideremia, Gene Deletion, Adaptor Proteins, Signal Transducing
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4
المؤلفون: P. M. van Zandvoort, I. H. Pawlowitzki, J.A.J.M. van den Hurk, Wolfgang Holzgreve, Frans P.M. Cremers, P. Szabo, B.A. van Oost, F. Brunsmann
المصدر: American journal of medical genetics. 44(6)
مصطلحات موضوعية: Adult, Genetic Markers, Male, X Chromosome, DNA Mutational Analysis, Chorionic villus sampling, Biology, Polymerase Chain Reaction, Choroideremia, Pregnancy, medicine, Humans, Allele, reproductive and urinary physiology, Genetics (clinical), Genetics, Fetus, medicine.diagnostic_test, Infant, Newborn, Single-strand conformation polymorphism, medicine.disease, eye diseases, Pedigree, medicine.anatomical_structure, Chorionic Villi Sampling, embryonic structures, Chorionic villi, Female, sense organs, Restriction fragment length polymorphism, Polymorphism, Restriction Fragment Length
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5
المصدر: Archives of Gynecology. 227:47-54
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, medicine, Obstetrics and Gynecology, General Medicine, business
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6
المؤلفون: W. Scholz, G. Röhrborn, M. Bartsch-Sandhoff, L. Stephan, I. H. Pawlowitzki
المصدر: Human Genetics. 31:59-65
مصطلحات موضوعية: Genetics, Biology, Humanities, Genetics (clinical)
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7
المؤلفون: T. F. Wienker, Andreas Gal, K. Rüther, D. Ahlert, F. Brunsmann, D. Hogenkamp, I. H. Pawlowitzki, W. Hammerstein
المصدر: Human Genetics. 73:123-126
مصطلحات موضوعية: Male, X Chromosome, Genetic Linkage, Locus (genetics), Biology, Choroideremia, Genetics, medicine, Humans, Gene, Genetics (clinical), X chromosome, Gene map, Choroid, Hybridization probe, Retinal Degeneration, Chromosome Mapping, DNA, Uveal Diseases, medicine.disease, Human genetics, Pedigree, Phenotype, Genetic marker, Female
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8
المؤلفون: Mittenburger Hg, Fränz J, H. Frohberg, Okimoto S, I. H. Pawlowitzki, G. Röhrborn, D. Müller, Schencking Ms, A. Grafe, H. Träger, Strasser Ff, Nautsch C
المصدر: Human Genetics. 42:15-25
مصطلحات موضوعية: Male, Time Factors, Physiology, Chromosomes, Chinese hamster, Mice, Chromosome analysis, Bone Marrow, Cricetinae, Isoniazid, Genetics, medicine, Animals, Metaphase, Genetics (clinical), Chromosome Aberrations, biology, Incidence (epidemiology), biology.organism_classification, Rats, medicine.anatomical_structure, Karyotyping, Immunology, Standard protocol, Female, Critical range, Bone marrow, After treatment, medicine.drug
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9
المؤلفون: I. H. Pawlowitzki, D. Gänshirt
المصدر: Human Genetics. 67:241-244
مصطلحات موضوعية: Adult, Male, Adolescent, Aneuploidy, Biology, Restriction fragment, chemistry.chemical_compound, Y Chromosome, Genetics, medicine, Humans, Deoxyribonucleases, Type II Site-Specific, Sex Chromosome Aberrations, Genetics (clinical), Fluorescent Dyes, Base Sequence, Mosaicism, DNA Restriction Enzymes, medicine.disease, Molecular medicine, Molecular biology, Human genetics, Chromosome Banding, Restriction enzyme, chemistry, Child, Preschool, biology.protein, Female, Chromosomal dna, DNA
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10
المؤلفون: Ch. Nautsch, D. Müller, R. Rathenberg, H. Schwegler, I. D. Adler, I. H. Pawlowitzki, Herbert G. Miltenburger, H. Träger, A. Schmaltz
المصدر: Human Genetics. 42:44-49
مصطلحات موضوعية: Chromosome Aberrations, Male, medicine.medical_specialty, Time Factors, Isoniazid, Biology, bacterial infections and mycoses, biology.organism_classification, Spermatozoa, Spermatogonia, Chinese hamster, Mice, Endocrinology, Cricetinae, Internal medicine, Immunology, Genetics, medicine, Animals, Genetics (clinical), medicine.drug