المؤلفون: Sari E, Bereket A, Yeşilkaya E, Baş F, Bundak R, Aydın BK, Darcan Ş, Dündar B, Büyükinan M, Kara C, Adal E, Akıncı A, Atabek ME, Demirel F, Çelik N, Özkan B, Özhan B, Orbak Z, Ersoy B, Doğan M, Ataş A, Turan S, Gökşen D, Tarım Ö, Yüksel B, Ercan O, Hatun Ş, Şimşek E, Ökten A, Abacı A, Döneray H, Özbek MN, Keskin M, Önal H, Akyürek N, Bulan K, Tepe D, Emeksiz HC, Demir K, Kızılay D, Topaloğlu AK, Eren E, Özen S, Demirbilek H, Abalı S, Akın L, Eklioğlu BS, Kaba S, Anık A, Baş S, Unuvar T, Sağlam H

مصطلحات موضوعية: Abnormal Karyotype, Adolescent, Adult, Anthropometry, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Phenotype, Turner Syndrome/*diagnosis/*genetics, Young Adult

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3566::e4758144ffe0a9adb9bfde471b84ba44Test

المؤلفون: Ozturk, YEŞİM, Niinikoski, H., Bonnemains, C., Marioli, S., Barat, P., De Parscau, L., Meyer, M., Bedu, A., Güttler, F., Pazdirkova, R., Prochazkova, D., Sarnavka, V., Baric, I., Toromanovic, A., Tahirovic, H., Scholl-Bürgi, S., Karall, D., Van Spronsen, F.J., Trefz, Friedrich K., Giovannini, Marcello, Feillet, François, Demirkol, M., Bélanger-Quintana, A., Blau, Nenad, Aydin, H., Coskun, T., Dursun, A., Kalkanoglu, S.H.S., Tokatli, A., Eminoglu, F.T., Hasanoglu, A., Baumgartner, M., Onenli-Mungan, N., Yüksel, B., Gil-Ortega, D., Odent, S., Eyer, D., Labarthe, F., Hennermann, J.B., Mönch, E., Stolz, S., Spiekerkötter, U., Knerr, I., Schwab, K.O., Kreuder, J., Ullrich, K., Das, A.M., Burgard, P., Kon-Stantopoulou, V., Lindner, M., Müller, E., Haase, C., Beblo, S., Weigel, J., Plötzch, S., Muntau, A., Weglage, J., Marquardt, J., Scheible, D., Clemens, P., Schulpis, K.H., Papadia, F., Salardi, S., Meli, C., Donati, M.A., Procopio, E., Cerone, R., Riva, E., Giovannini, M., Paci, S., Carbone, M.T., Burlina, A., Lapichino, L., Cotugno, G., Leuzzi, V., Rubio-Gozalbo, E., De Vries, M., De Klerk, J.B.C., Walter, J., Cleary, M.A., Schwann, B., Robinson, P., Galloway, P., Hendriksz, C.J., Iversen, K., Wiig, I., Jørgensen, J., Milanowski, A., Nowacka, M., Djordjevic, M., Laketa, C., Gutiérrez-Junquera, C., Márquez-Armenteros, A., Vilaseca Busca, M.A., Campistol Plana, J., Peña-Quintana, L., Valverde, F.S., Gonzalez-Lamuno, D., Couce-Pico, M.L., Dalmau Serra, J., Baldellou-Vazquez, A., Garcia-Jimenez, M.C., Papadopoulou, D., Almm, J., Okur, I., Süheyl, E.F., Tumer, L., Aydogdu, S., Aktuglu-Zeybek, A.C., Cansever, S., Arslan, N., Erdur, B., Coker, M., Kalkan, U.S., Hizel-Bülbül, S., Tanzer, F., MacDonald, Anita, MacDonald, A., Chakrapani, A., Gomez, A.R., Fouilhoux, A., Chabrol, B., Wagner, K., Billette De Villemeur, T., De Lonlay-Debeney, P., Ogier De Baulny, H., Halldin Stenlid, M., Nuoffer, J.M., Rohrbach, M.

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM), Kindergeneeskunde, RS: GROW - School for Oncology and Reproduction, University of Zurich, Blau, N

المصدر: Molecular Genetics and Metabolism, 99(2), 109-115. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 99(2), 109-115. Academic Press Inc.

مصطلحات موضوعية: Dieticians, Pediatrics, 1303 Biochemistry, phenylalanine, Endocrinology, Diabetes and Metabolism, Prevalence, CHILDREN, Biochemistry, RECOMMENDATIONS, Endocrinology, Hyperphenylalaninemia, DIETARY CONTROL, Phenylketonurias, Surveys and Questionnaires, Epidemiology, Registries, guidelines, BH4, 1310 Endocrinology, Europe, 2712 Endocrinology, Diabetes and Metabolism, Child, Preschool, 10076 Center for Integrative Human Physiology, CONCURRENT PHENYLALANINE LEVELS, PKU, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Health Planning Guidelines, NEUTRAL AMINO-ACIDS, MEDLINE, 610 Medicine & health, Survey result, 1311 Genetics, Age groups, 1312 Molecular Biology, Genetics, medicine, Humans, Molecular Biology, hyperphenylalaninemia, business.industry, Infant, Newborn, nutritional and metabolic diseases, bh4, diet, pku, Guideline, medicine.disease, TRANSPORT, phenylketonuria, European countries, tetrahydrobiopterin, 10036 Medical Clinic, Health Care Surveys, 570 Life sciences, biology, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8d2bb93cf1708aac8eb605a3836b0eTest
https://doi.org/10.1016/j.ymgme.2009.09.005Test

المؤلفون: Dal G.M., Ergüner, B., Saǧiroǧlu, M.S., Yüksel, B., Onat O.E., Alkan, C., Özçelik, T.

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: DNA, adult, article, controlled study, DNA isolation, female, gene frequency, gene mapping, gene sequence, genetic procedures, genetic variability, genome analysis, genotype, human, human experiment, indel mutation, male, middle aged, mitosis, monozygotic twins, mutagenesis, mutation rate, normal human, parent, priority journal, reference allele frequency, Sanger sequencing, single nucleotide polymorphism, single nucleotide variation, young adult

وصف الملف: application/pdf

العلاقة: http://dx.doi.org/10.1136/jmedgenet-2013-102197Test; 222593; http://hdl.handle.net/11693/26399Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2013-102197Test
http://hdl.handle.net/11693/26399Test