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1
المؤلفون: J H, Tuerlings, L H, Hoefsloot, J A, Kremer
المصدر: Nederlands tijdschrift voor geneeskunde. 145(32)
مصطلحات موضوعية: Adult, Male, Polymorphism, Genetic, Incidence, RNA-Binding Proteins, Genetic Counseling, Deleted in Azoospermia 1 Protein, Oligospermia, Y Chromosome, Humans, Genetic Testing, Gene Deletion, Germ-Line Mutation, Infertility, Male, Netherlands
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a6860ffb5e157453b8a50e2f63b64579
https://pubmed.ncbi.nlm.nih.gov/11525089 -
2
المؤلفون: P E, Jira, R J, Wanders, J A, Smeitink, J, De Jong, R A, Wevers, W, Oostheim, J H, Tuerlings, R C, Hennekam, R C, Sengers, H R, Waterham
المصدر: Annals of human genetics. 65(Pt 3)
مصطلحات موضوعية: Male, Heterozygote, Oxidoreductases Acting on CH-CH Group Donors, Genotype, RNA Splicing, DNA Mutational Analysis, Infant, Newborn, Mutation, Missense, Infant, Genes, Recessive, Exons, Smith-Lemli-Opitz Syndrome, Phenotype, Codon, Nonsense, Karyotyping, Mutation, Humans, Female, Child, Frameshift Mutation, Oxidoreductases, Gene Deletion
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3
المؤلفون: J H, Tuerlings, B C, Hamel
المصدر: Nederlands tijdschrift voor geneeskunde. 144(34)
مصطلحات موضوعية: Humans, Genetic Predisposition to Disease, Genetic Testing, Syndrome, Hand Deformities, Congenital, Referral and Consultation, Netherlands
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5e1467f130792f9305c1a722f5ea2ded
https://pubmed.ncbi.nlm.nih.gov/10972056 -
4
المؤلفون: J J, Engelen, J H, Tuerlings, J C, Albrechts, C T, Schrander-Stumpel, A J, Hamers, C E, De Die-Smulders
المصدر: Genetic counseling (Geneva, Switzerland). 11(1)
مصطلحات موضوعية: Genetic Markers, Pregnancy, Chromosomes, Human, Pair 22, Prenatal Diagnosis, Chromosome Inversion, Humans, Female, Polymerase Chain Reaction, In Situ Hybridization, Fluorescence
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0d8cddefb1f5057dc3d218c06566ed8b
https://pubmed.ncbi.nlm.nih.gov/10756422 -
5
المؤلفون: J H, Tuerlings, B J, Otten, C J, Hamilton, H G, Brunner
المصدر: Clinical dysmorphology. 8(3)
مصطلحات موضوعية: Adult, Male, Radius, Testis, Humans, Syndrome, Follicle Stimulating Hormone, Infertility, Male
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::292e6d74c09d0d0bccdb59940812f2e0
https://pubmed.ncbi.nlm.nih.gov/10457855 -
6
المؤلفون: J H, Tuerlings, J A, Kremer, E J, Meuleman
المصدر: Nederlands tijdschrift voor geneeskunde. 141(23)
مصطلحات موضوعية: Adult, Male, Vas Deferens, Humans, Oligospermia, Infertility, Male
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dc97a10a9d7b8c4ab57ea489c7dbe757
https://pubmed.ncbi.nlm.nih.gov/9380141 -
7
المؤلفون: C M, van Ravenswaaij-Arts, J H, Tuerlings, A F, Van Heyst, J G, Nijhuis, J, Niehof, D F, Smeets
المصدر: Prenatal diagnosis. 17(4)
مصطلحات موضوعية: Chromosome Aberrations, Male, Mosaicism, Pregnancy Trimester, Third, Infant, Newborn, Chromosome Disorders, Trisomy, Fetal Diseases, Pregnancy, Amniocentesis, Humans, Abnormalities, Multiple, False Positive Reactions, Female, Chromosomes, Human, Pair 18
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8
المؤلفون: J H, Tuerlings, J C, Oosterwijk, L P, ten Kate
المصدر: Prenatal diagnosis. 16(6)
مصطلحات موضوعية: Adult, Male, Risk, Genotype, Karyotyping, Humans, Female, Genetic Counseling, Down Syndrome, Pedigree
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9
المؤلفون: M, van Hoven, J G, Nijhuis, J H, Tuerlings
المصدر: Nederlands tijdschrift voor geneeskunde. 140(18)
مصطلحات موضوعية: Adult, Polyploidy, Pregnancy Trimester, First, Fetus, Pre-Eclampsia, Pregnancy, Pregnancy Trimester, Second, Humans, Abnormalities, Multiple, Female, Fetal Death
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::53184503f0d203125f9b7e22252106d9
https://pubmed.ncbi.nlm.nih.gov/8692310 -
10
المؤلفون: M C, Cornel, J H, Tuerlings, A S, Breed, L P, ten Kate
المصدر: Nederlands tijdschrift voor geneeskunde. 134(38)
مصطلحات موضوعية: Pregnancy, Karyotyping, Pregnancy, High-Risk, Prenatal Diagnosis, Infant, Newborn, Humans, Female, Trisomy, Registries, Down Syndrome, Maternal Age, Netherlands
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c219e7f64ed54c0e4fa3f6218fe171fe
https://pubmed.ncbi.nlm.nih.gov/2145518