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1دورية أكاديمية
المؤلفون: R. Koster, R. D. Brandão, D. Tserpelis, C. E. P. van Roozendaal, C. N. van Oosterhoud, K. B. M. Claes, A. D. C. Paulussen, M. Sinnema, M. Vreeburg, V. van der Schoot, C. T. R. M. Stumpel, M. P. G. Broen, L. Spruijt, M. C. J. Jongmans, S. A. J. Lesnik Oberstein, A. S. Plomp, M. Misra-Isrie, F. A. Duijkers, M. J. Louwers, R. Szklarczyk, K. W. J. Derks, H. G. Brunner, A. van den Wijngaard, M. van Geel, M. J. Blok
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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2دورية أكاديمية
المؤلفون: M. R. F. Reijnders, M. Kousi, G. M. van Woerden, M. Klein, J. Bralten, G. M. S. Mancini, T. van Essen, M. Proietti-Onori, E. E. J. Smeets, M. van Gastel, A. P. A. Stegmann, S. J. C. Stevens, S. H. Lelieveld, C. Gilissen, R. Pfundt, P. L. Tan, T. Kleefstra, B. Franke, Y. Elgersma, N. Katsanis, H. G. Brunner
المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: S L V M Stroeks, J A J Verdonschot, I G Lunde, M T H M Henkens, M Willemars, F Schianchi, J F P Luiken, P Wang, K Derks, I P C Krapels, E K Vanhoutte, E A V Jones, H G Brunner, M Nabben, S R B Heymans
المصدر: European Heart Journal. 43
مصطلحات موضوعية: Cardiology and Cardiovascular Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c943dff3c44f936cd23715434780ef4c
https://doi.org/10.1093/eurheartj/ehac544.758 -
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المؤلفون: H. G. Brunner, Stenvert L. S. Drop, G. H. G. Sinnecker, Sergio P. A. Toledo, A. Richter-Unruh, W. A. Kors, H. T. Wessels, Axel P. N. Themmen, Miriam Verhoef-Post, John W.M. Martens, Annemie L.M. Boehmer
المصدر: Clinical Endocrinology. 56:103-112
مصطلحات موضوعية: Genetics, Silent mutation, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Biology, Gene mutation, medicine.disease, Compound heterozygosity, Molecular biology, Exon, Endocrinology, Internal medicine, medicine, Leydig cell hypoplasia, Coding region, Missense mutation, Gene
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المؤلفون: John W.M. Martens, Axel P. N. Themmen, H G Brunner
المساهمون: Developmental Biology
المصدر: Journal of Endocrinology, 153, 179-183
Journal of Endocrinology, 153, 2, pp. 179-183
Journal of Endocrinology, 179-183. Bioscientifica Ltd
ISSUE=153;STARTPAGE=179;ENDPAGE=183;ISSN=0022-0795;TITLE=Journal of Endocrinology
Journal of Endocrinology, 153, pp. 179-183مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Disorders of Sex Development, Puberty, Precocious, Biology, Receptors, Gonadotropin, Endocrinology, Internal medicine, medicine, Humans, Mechanistic and clinical genetic aspects of gonadotropin receptor mutations, Receptor, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Gene, Genes, Dominant, Receptors, LH, Phenotype, Mutation, Mutation (genetic algorithm), Mechanistische en klinisch genetische aspecten van gonadotropine receptor mutaties, Receptors, FSH, Female, Gonadotropin receptor, Gonadotropin
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0027fe391766cfb1ff58f14b9394b38e
https://doi.org/10.1677/joe.0.1530179 -
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المؤلفون: P, Makrythanasis, B W, van Bon, M, Steehouwer, B, Rodríguez-Santiago, M, Simpson, P, Dias, B M, Anderlid, P, Arts, M, Bhat, B, Augello, E, Biamino, E M H F, Bongers, M, Del Campo, I, Cordeiro, A M, Cueto-González, I, Cuscó, C, Deshpande, E, Frysira, L, Izatt, R, Flores, E, Galán, B, Gener, C, Gilissen, S M, Granneman, J, Hoyer, H G, Yntema, C M, Kets, D A, Koolen, C l, Marcelis, A, Medeira, L, Micale, S, Mohammed, S A, de Munnik, A, Nordgren, S, Psoni, W, Reardon, N, Revencu, T, Roscioli, M, Ruiterkamp-Versteeg, H G, Santos, J, Schoumans, J H M, Schuurs-Hoeijmakers, M C, Silengo, L, Toledo, T, Vendrell, I, van der Burgt, B, van Lier, C, Zweier, A, Reymond, R C, Trembath, L, Perez-Jurado, J, Dupont, B B A, de Vries, H G, Brunner, J A, Veltman, G, Merla, S E, Antonarakis, A, Hoischen
المصدر: Clinical Genetics, Vol. 84, No 6 (2013) pp. 539-545
مصطلحات موضوعية: Male, Kabuki syndrome, Facies, Niikawa–Kuroki syndrome, Sequence Analysis, DNA, genotype–phenotype correlation, Hematologic Diseases, Neoplasm Proteins, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Face, Mutation, MLL2, Humans, ddc:576.5, Abnormalities, Multiple, Female, Genetic Association Studies
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المؤلفون: W. Epping, Robert Kraaij, A. P. N. Themmen, H. G. Brunner, J. A. Grootegoed, M. Post, E. Milgrom, H. Kremer
المصدر: Journal of Clinical Endocrinology and Metabolism, 80, 11, pp. 3168-3172
Journal of Clinical Endocrinology and Metabolism, 80, 3168-3172مصطلحات موضوعية: Male, medicine.medical_specialty, Growth-hormone-releasing hormone receptor, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Clinical description and delineation of genetic syndromes, Clinical Biochemistry, Puberty, Precocious, Biology, Biochemistry, Cell Line, Endocrinology, Internal medicine, Cyclic AMP, medicine, Humans, Precocious puberty, Receptor, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Klinische beschrijving en moleculaire definiëring van genetische syndromen, Insulin-like growth factor 1 receptor, Sex Characteristics, Base Sequence, Biochemistry (medical), luteinizing hormone/choriogonadotropin receptor, Receptors, LH, Familial male-limited precocious puberty, medicine.disease, Child, Preschool, Molecular Probes, Mutation, Leydig cell hypoplasia, Follicle-stimulating hormone receptor
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2394ba6de7eb1e4524bec76a9b13e50
https://hdl.handle.net/2066/21694 -
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المؤلفون: A T, Vulto-van Silfhout, A F M, de Brouwer, N, de Leeuw, C C, Obihara, H G, Brunner, B B A, de Vries
المصدر: Molecular syndromology. 2(6)
مصطلحات موضوعية: Short Report
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المؤلفون: K M, Landsbergen, H G, Brunner, P, Manders, N, Hoogerbrugge, J B, Prins
المصدر: Genetic counseling (Geneva, Switzerland). 21(4)
مصطلحات موضوعية: Ovarian Neoplasms, Health Knowledge, Attitudes, Practice, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Genetic Counseling, Self-Help Groups, Patient Education as Topic, Adaptation, Psychological, Humans, Female, Genetic Predisposition to Disease, Risk Reduction Behavior, Netherlands
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المؤلفون: K M, Landsbergen, J B, Prins, H G, Brunner, N, Hoogerbrugge
المصدر: Genetic counseling (Geneva, Switzerland). 20(4)
مصطلحات موضوعية: Adult, Diagnosis, Differential, Adaptation, Psychological, Humans, Microsatellite Instability, Pilot Projects, Genetic Testing, Middle Aged, Colorectal Neoplasms, Attitude to Health, Colorectal Neoplasms, Hereditary Nonpolyposis, Referral and Consultation, Netherlands