المؤلفون: C. E. Van Die, N. Crama, B. C. J. Hamel

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/84/94/Eur_J_Pediatr_2010_Jan_10_169(1)_77-88.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.356.2770

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.356.2770

المؤلفون: B. C. J. Hamel

المصدر: Bijblijven. 27:62-64

مصطلحات موضوعية: Political science, General Medicine, Theology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6aaecda9eb72a724eeecdb4d40df3baf
https://doi.org/10.1007/s12414-011-0080-1

المؤلفون: K. Björkegren, C. Bergmark, U. de Faire, M. Azam Mansoor, A. Svardal, A. G. Bostom, R. Roubenoff, P. Dellaripa, M. R. Nadeau, P. Sutherland, P. W. F. Wilson, P. F. Jacques, J. Selhub, I. H. Rosenberg, J. T. Brosnan, B. Hall, D. Shemin, K. L. Lapane, R. R. Williams, R. C. Ellison, G. J. Cuskelly, H. McNulty, J. J. Strain, J. M. McPartlin, J. M. Scott, B. Chadefaux-Vekemans, M. Coudé, J. Aupetit, P. Kamoun, B. Aral, M. T. Zabot, R. Calaf, O. Ghiringelli, A. Barlatier, P. Charpiot, P. H. Rolland, D. Garçon, T. Augier, C. Chareyre, A. Chango, F. Hodez, H. Tronel, G. Nuel, F. Michel, S. Frémont, L. Méjean, J. P. Nicolas, M. Candito, P. Chambon, P. Gibelin, J. Amsellem, M. Baudouy, P. Morand, D. Pringuey, V. Aubin-Brunet, F. Beaulieu, G. Darcourt, P. Bedoucha, H. Alchaar, M. Chatel, H. W. de Valk, R. van der Griend, M. K. G. van Eeden, E. de Groot, M. Duran, J. A. M. Smeitink, J. B. C. de Klerk, D. Wittebol-Post, M. -O. Rolland, F. J. L. M. Haas, O. J. A. Th. Meuwissen, J. D. Banga, B. T. Poll-The, J. I. P. de Vries, G. A. Dekker, H. P. van Geijn, P. C. Huigens, C. Jakobs, B. M. E. von Blomberg, R. Deulofeu, M. Giralt, C. Aibar, C. Bauchet, A. M. Ballesta, G. Varela, N. Vila, A. Chamorro, F. J. Casals, J. Diaz Cremades, L. Daly, R. Meleady, I. Graham, M. den Heijer, I. A. Brouwer, W. B. J. Gerrits, G. M. J. Bos, H. J. Blom, T. Koster, J. P. Vandenbroucke, E. Briët, F. R. Rosendaal, G. Fischer, C. Behrend, P. Bartholmes, I. Fermo, R. Paroni, S. Vigano, A. D’Angelo, D. G. Franken, G. H. J. Boers, B. C. J. Hamel, J. H. J. Ruijs, A. Tangerman, A. B. Guttormsen, P. M. Ueland, H. Refsum, E. Svarstad, W. Gao, E. Goldman, H. Jakubowski, G. Sebastio, M. P. Sperandeo, R. de Franchis, G. Andria, T. A. Garrow, J. Hladovec, Z. Sommerova, A. Písariková, C. H. Halsted, J. Villanueva, C. J. Chandler, S. P. Stabler, R. H. Allen, L. Muskhelishvili, S. J. James, L. Poirer, D. W. Jacobsen, S. R. Savon, P. E. DiCorleto, D. Jourdheuil-Rahmani, E. Joosten, R. Riezler, R. Allen, T. Marquardt, K. Ullrich, E. Harms, H. G. Koch, S. Evers, K. H. Grotemeyer, L. Vogelpohl, A. von Eckardstein, T. Deufel, J. Kraus, V. Kozich, M. Janosik, J. Sokolová, G. Bukovská, J. P. Kraus, L. A. J. Kluitmans, L. P. van den Heuvel, E. Stevens, J. M. F. Trubels, B. A. van Oost, S. Kittner, R. Macko, J. R. Hebel, J. Rohr, M. R. Malinow, B. Upson, D. Buchholz, C. Earley, C. Johnson, T. R. Price, J. Rosario, M. Sloan, B. Stern, R. Wityk, M. Wozniak, R. Sherwin, P. Stolley, L. Kluijtmans, L. van den Heuvel, F. Trijbels, H. Blom, G. Boers, B. van Oost, R. Rozen, F. Löhrer, C. Angst, B. Fowler, M. Zaugg, F. Brunner, W. E. Haefeli, B. Nedrebø, U. -B. Ericsson, E. A. Lien, J. London, E. Paly, V. Paul, D. Paris, J. F. Chassé, J. Møller, K. Rasmussen, P. Verhoef, K. E. McMartin, T. J. Phifer, J. S. Alexander, M. Middlebrooks, L. E. Childress, S. Fremont, F. Felden, B. Guerci, C. Creton, P. Drouin, G. P. Oakley, P. R. P. Elias, A. C. Hann, C. G. Curtis, F. A. Rose, N. Tudball, F. Parrot-Roulaud, C. Cochet, B. Catargi, F. Leprat, J. -L. Latapie, A. F. Perna, N. G. De Santo, D. Ingrosso, P. Galletti, V. Zappia, G. Sassoust, P. Boissieras, A. K. Majors, L. A. Ehrhart, E. H. Pezacka, I. J. Perry, R. W. Morris, S. B. Ebrahim, A. G. Shaper, K. Pietrzik, J. Dierkes, M. Kroesen, P. Bung, J. Moller, A. Remacha, F. Garcia-Die, J. Cadafalch, H. J. Barceló, H. Parellada, B. Regland, C. -G. Gottfries, M. Andersson, J. Bagby, L. -E. Dyrehag, L. Abrahamsson, E. Ronge, B. Kjellman, P. Frosst, B. Christensen, P. Goyette, D. S. Rosenblatt, J. Genest, B. Riedel, A. M. Svardal, J. Silberberg, R. Crooks, J. Fryer, C. Ray, X. W. Guo, L. Xie, N. Dudman, X. Guo, B. Smith, D. Kohlman-Trigoboff, S. Simsir, A. J. C. Strydom, E. Schlüssel, G. Preibisch, E. F. E. Elstner, S. Pütter, M. D. E. H. Spuijbroek, T. A. W. Goddijn-Wessel, M. G. A. J. Wouters, E. F. v. d. Molen, R. P. M. Steegers-Theunissen, J. M. F. Trijbels, C. M. G. Thomas, T. K. A. B. Eskes, M. Y. Tsai, N. Hanson, N. Key, K. Schwichtenberg, U. Garg, L. Todesco, N. Pollaert, B. Thorand, M. Hages, W. Holzgreve, M. J. van der Mooren, L. A. Schellekens, R. Rolland, N. v. d. Put, L. v. d. Heuvel, T. Eskes, R. Steegers-Theunissen, E. Mariman, M. d. Heyer, R. Daher, F. Van Lente, A. B. Vilkovsky, I. V. Maev, E. L. Richter, M. D. Kirnus, G. Varela-Moreiras, E. Alonso-Aperte, M. Rubio, M. Gassó, L. Alvarez, J. Caballeria, J. Rodés, J. M. Mato, L. A. G. J. M. van Aerts, J. H. J. Copius Peereboom-Stegeman, J. Noordhoek, L. P. v. d. Heuvel, L. A. H. Monnens, C. van Guidener, M. J. F. M. Janssen, J. Surachno, C. D. A. Stehouwer, M. van den Berg, E. Bierdrager, J. A. Rauwerda, B. Wilcken, J. Hammond, C. J. C. M. Hamilton, G. F. Borm, H. Wang, J. -C. Tsai, M. A. Perrella, M. Yoshizumi, N. E. S. Sibinga, E. Haber, T. H. -T. Chang, R. Schlegel, M. -E. Lee, J. Woodside, D. McMaster, J. Yarnell, I. Young, C. Mercer, K. Byrne, A. Evans, F. Gey, X. M. Gao, G. Dougan, P. Wordsworth, A. McMichael, P. B. Young, D. G. Kennedy, A. M. Molloy, P. Ward, E. Naughten, S. Cahalane, D. Murphy, P. Mayne, P. Chauveau, P. Jungers, D. Z. B. van Asselt, G. M. de Wild, W. A. van Staveren, W. H. L. Hoefnagels, M. Naruszewicz, A. Staniewicz, K. Dziewanowski, J. Evrovski, D. E. C. Cole, Michael Callaghan, A. Lindgren, L. Brattström, B. Hultberg, C. H. Hennekens, W. C. Willett, M. J. Stampfer, F. Frantzen, E. Sundrehagen, F. J. Kok, J. M. Gaziano, R. D. Reynolds, R. -J. Hsu, B. Shane, K. Robinson, K. Kottke-Marchant, R. Green, A. Gupta, D. Jacobsen, E. Mayer, D. Miller, K. Marchant, R. Greene, Y. -Y. Chong, M. Gupta, C. A. Sheppard, R. G. Matthews, H. A. C. M. Kruyssen, J. C. M. Witteman, C. Boushey, S. Beresford, G. Omenn, A. G. Motulsky, O. Nygard, S. E. Vollset, G. Kvale, I. Stensvold, T. Fiskerstrand, K. H. Bugge, A. Oshaug, C. H. Bjønnes, J. T. Wu, L. L. Wu, L. W. Wilson

المصدر: Irish Journal of Medical Science. 164:56-83

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Family medicine, Medicine, General Medicine, Homocysteine metabolism, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::538cc7ec48eaf3d1545ab1b7d99c9b8a
https://doi.org/10.1007/bf02967285

المؤلفون: Leopold M. G. Curfs, K.R. Ridderinkhof, B. C. J. Hamel, G.J.A. Ramakers, M.W. Van der Molen, M.W. van der Molen

المساهمون: Klinische Genetica, MUMC+: DA KG Polikliniek (9), Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Ontwikkelingspsychologie (Psychologie, FMG), Brein en Cognitie (Psychologie, FMG)

المصدر: Brain and Cognition, 78(3), 206-217. Elsevier Science
Brain and Cognition, 78(3), 206-217. Academic Press Inc.

مصطلحات موضوعية: Adult, Male, Down syndrome, Cognitive Neuroscience, Decision Making, Experimental and Cognitive Psychology, Stimulus (physiology), Neuropsychological Tests, Cognition, Arts and Humanities (miscellaneous), Attentional set-shifting, Reversal learning, Distraction, Intellectual Disability, Developmental and Educational Psychology, medicine, Humans, Attention, IED, Mental age, Cognitive flexibility, CANTAB, medicine.disease, Child development, Fragile X syndrome, Neuropsychology and Physiological Psychology, Set, Psychology, Female, Psychology, Cognitive psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9f66755770a4289e720c6af1e2db121
http://hdl.handle.net/1887/21880

المؤلفون: T I, Winarni, F E P, Mundhofir, A, Ediati, M, Belladona, W M, Nillesen, H G, Yntema, B C J, Hamel, S M H, Faradz, R J, Hagerman

المصدر: Clinical genetics. 83(3)

مصطلحات موضوعية: Family Health, Male, Syndrome, Middle Aged, Neuropsychological Tests, Pedigree, Fragile X Mental Retardation Protein, Indonesia, Fragile X Syndrome, Tremor, Humans, Ataxia, Female, Genetic Predisposition to Disease, Trinucleotide Repeat Expansion, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::33d9d1aa7be72b5e0e03648510047d99
https://pubmed.ncbi.nlm.nih.gov/22568721

المؤلفون: F E P, Mundhofir, A J A, Kooper, T I, Winarni, A P T, Smits, S M H, Faradz, B C J, Hamel

المصدر: Genetic counseling (Geneva, Switzerland). 21(1)

مصطلحات موضوعية: Family Health, Male, Chromosomes, Human, Pair 22, Intellectual Disability, Skull, Humans, Abnormalities, Multiple, Trisomy, Child, Facial Bones, Translocation, Genetic, Chromosomes, Human, Pair 8, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::698293b1068bdd89af82362dc3a1d0d2
https://pubmed.ncbi.nlm.nih.gov/20420036

المؤلفون: T, Kleefstra, B C J, Hamel

المصدر: Clinical genetics. 67(6)

مصطلحات موضوعية: Adult, Male, Phenotype, Genes, Genotype, Mutation, Mental Retardation, X-Linked, Chromosome Mapping, Humans

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e9f8ec74a96b482d58ae88f799a85745
https://pubmed.ncbi.nlm.nih.gov/15857409

المؤلفون: B C J, Hamel

المصدر: The Netherlands journal of medicine. 62(5)

مصطلحات موضوعية: Humans, Ehlers-Danlos Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::27cbbf4fa6ddf98dd23d6d6229e62f5f
https://pubmed.ncbi.nlm.nih.gov/15366695

المؤلفون: T, Kleefstra, C E, Franken, Y H J M, Arens, G J A, Ramakers, H G, Yntema, E A, Sistermans, C F C H, Hulsmans, W N, Nillesen, H, van Bokhoven, B B A, de Vries, B C J, Hamel

المصدر: Clinical genetics. 66(4)

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Genetic Linkage, Infant, Nuclear Proteins, Syndrome, Middle Aged, Pedigree, DNA-Binding Proteins, Phenotype, Child, Preschool, Mutation, Mental Retardation, X-Linked, Humans, Family, Female, Carrier Proteins, Child, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3863d5aed83b04bed0aaa45cba655103
https://pubmed.ncbi.nlm.nih.gov/15811016

المؤلفون: E M, Ruiter, E M H F, Bongers, D F C M, Smeets, A M, Kuijpers-Jagtman, B C J, Hamel

المصدر: Clinical genetics. 64(3)

مصطلحات موضوعية: Male, Chromosomes, Human, Pair 22, Incidence, Infant, Newborn, Infant, Syndrome, Unnecessary Procedures, Cleft Palate, Neonatal Screening, Prevalence, Humans, Abnormalities, Multiple, Female, Genetic Testing, Chromosome Deletion, In Situ Hybridization, Fluorescence, Netherlands

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7b8d993554858cf3385a1a77b5a827e7
https://pubmed.ncbi.nlm.nih.gov/12919136

المؤلفون: M F, Verweij, B C J, Hamel

المصدر: Genetic counseling (Geneva, Switzerland). 13(2)

مصطلحات موضوعية: Adult, Informed Consent, Mutation, Humans, Blood Donors, Cardiomegaly, Female, Genetic Counseling, Truth Disclosure, Ethics, Research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d633741d75ec78c5d59d0e9b6b391b23
https://pubmed.ncbi.nlm.nih.gov/12150210

المؤلفون: T, Kleefstra, H G, Yntema, A R, Oudakker, T, Romein, E, Sistermans, W, Nillessen, H, van Bokhoven, B B A, de Vries, B C J, Hamel

المصدر: Clinical genetics. 61(5)

مصطلحات موضوعية: DNA-Binding Proteins, Male, Repressor Proteins, Chromosomal Proteins, Non-Histone, Methyl-CpG-Binding Protein 2, Intellectual Disability, DNA Mutational Analysis, Rett Syndrome, Gynecomastia, Humans, Obesity, Child, Frameshift Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::17d0435eb256177eb3786132a955a098
https://pubmed.ncbi.nlm.nih.gov/12081720

المؤلفون: B. C. J. Hamel, L. Kapusta, Han G. Brunner

المصدر: European journal of pediatrics. 151(11)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Nails, Malformed, Growth, Facial Bones, Craniosynostosis, Diagnosis, Differential, Fingers, Child Development, Craniofrontonasal dysplasia, Intellectual Disability, Medicine, Humans, Abnormalities, Multiple, Syndactyly, Frontonasal dysplasia, Child, Coronal craniosynostosis, business.industry, Skull, Toes, medicine.disease, Dermatology, Hypotonia, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f81c98d058fe7dd5e6d3965fa804e81
https://pubmed.ncbi.nlm.nih.gov/1468459

المؤلفون: Edwin C. M. Mariman, B. C. J. Hamel

مصطلحات موضوعية: Genetics, Male, Heterozygote, Neural tube defect, Concordance, Neural tube, Biology, medicine.disease, Pedigree, medicine.anatomical_structure, medicine, Multiple case, Humans, Female, Neural Tube Defects, Sex Ratio, Genetics (clinical), Sex ratio, Demography, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a3cdff8d184fe65ed5e9a97693da378
https://europepmc.org/articles/PMC1016125/

المؤلفون: E. D. A. M. Schretlen, B. C. J. Hamel

المصدر: European Journal of Pediatrics. 138:130-135

مصطلحات موضوعية: Adult, Male, Ineffective erythropoiesis, Pediatrics, medicine.medical_specialty, Porphyrins, Adolescent, Anemia, Iron, Sideroblastic anaemia, Ringed Sideroblasts, medicine.disease_cause, Porphyrin metabolism, hemic and lymphatic diseases, medicine, Humans, Child, business.industry, Pyridoxine, Total body, medicine.disease, Anemia, Sideroblastic, Hypochromic anemia, Pediatrics, Perinatology and Child Health, Female, Vitamin b6, business, 5-Aminolevulinate Synthetase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adf9056dc417d795e39b688fc8a9c1d4
https://doi.org/10.1007/bf00441138

المؤلفون: A. Yohani, B. C. J. Hamel

المصدر: Annals of tropical paediatrics. 1(3)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Omphalocele, Beckwith-Wiedemann Syndrome, business.industry, Incidence (epidemiology), 030231 tropical medicine, Beckwith–Wiedemann syndrome, Infant, Newborn, Nigeria, Malignancy, medicine.disease, Infant newborn, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Medicine, Humans, business, Insulin secretion, Pathological

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c25e33cb56b2a7927f5c50073e40bdd9
https://pubmed.ncbi.nlm.nih.gov/6185062

المؤلفون: B C J Hamel

المصدر: Tropical doctor. 12(4 Pt 2)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Public Health, Environmental and Occupational Health, Infant, Newborn, Black People, Bilirubin, Jaundice, Jaundice, Neonatal, Infectious Diseases, medicine, Humans, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab631c0fcf105a7b246dc1077af86130
https://pubmed.ncbi.nlm.nih.gov/7179455