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1دورية أكاديمية
المؤلفون: Tack, L. J. W., Brachet, C., Beauloye, V, Heinrichs, C., Boros, E., De Waele, K., van der Straaten , S., Van Aken, S., Craen, M., Lemay, A., Rochtus, A., Casteels, K., Beckers, D., Mouraux, T., Logghe, K., Van Loocke, M., MASSA, Guy, van de Vijver, K., Syryn, H., Van De Velde, J., De Baere, E., Verdin, H., Cools , M.
المساهمون: Tack, L. J. W., Brachet, C., Beauloye, V, Heinrichs, C., Boros, E., De Waele, K., van der Straaten , S., Van Aken, S., Craen, M., Lemay, A., Rochtus, A., Casteels, K., Beckers, D., Mouraux, T., Logghe, K., Van Loocke, M., MASSA, Guy, van de Vijver, K., Syryn, H., Van De Velde, J., De Baere, E., Verdin, H., Cools , M.
مصطلحات موضوعية: testicular regression, vanished testes, differences of sex development (DSD), hormone replacement therapy, long-term outcome, DHX37
وصف الملف: application/pdf
العلاقة: Human Reproduction Open, 2023 (4) (Art N° hoad047); http://hdl.handle.net/1942/42192Test; 2023; 001128101100001
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2دورية أكاديمية
المؤلفون: Tack, L J W, Brachet, C, Beauloye, V, Heinrichs, C, Boros, E, De Waele, K, van der Straaten, S, Van Aken, S, Craen, M, Lemay, A, Rochtus, A, Casteels, K, Beckers, Dominique, MOURAUX, Thierry, Logghe, K, Van Loocke, M, Massa, G, Van de Vijver, K, Syryn, H, Van De Velde, J, De Baere, E, Verdin, H, Cools, M
المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de pédiatrie
المصدر: Human Reproduction Open, Vol. 2023, no.4 (2023)
مصطلحات موضوعية: Industrial and Manufacturing Engineering, Environmental Engineering
العلاقة: boreal:283225; http://hdl.handle.net/2078.1/283225Test; urn:EISSN:2399-3529
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3دورية أكاديمية
المؤلفون: Yan, K. (Kezhi), Rousseau, J. (Justine), Machol, K. (Keren), Cross, L.A. (Laura A.), Agre, K.E. (Katherine E.), Gibson, C.F. (Cynthia Forster), Goverde, A. (Anne), Engleman, K.L. (Kendra L.), Verdin, H. (Hanna), De Baere, E. (Elfride), Potocki, L. (Lorraine), Zhou, D. (Dihong), Cadieux-Dion, M. (Maxime), Bellus, G.A. (Gary A.), Wagner, M.D. (Monisa D.), Hale, R.J. (Rebecca J.), Esber, N. (Natacha), Riley, A.F. (Alan F.), Solomon, B.D. (Benjamin D.), Cho, M.T. (Megan T.), McWalter, K. (Kirsty), Eyal, R. (Roy), Hainlen, M.K. (Meagan K.), Mendelsohn, B.A. (Bryce A.), Porter, H.M. (Hillary M.), Lanpher, B.C. (Brendan C.), Lewis, A.M. (Andrea M.), Savatt, J. (Juliann), Thiffault, I. (Isabelle), Callewaert, L., Campeau, P.M. (Philippe M), Yang, X.-J. (Xiang-Jiao)
المصدر: Science advances vol. 6 no. 4
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/124458Test; urn:hdl:1765/124458
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4دورية أكاديمية
المؤلفون: Almoallem, B, Arno, G, De Zaeytijd, J, Verdin, H, Balikova, I, Casteels, I, de Ravel, T, Hull, S, Suzani, M, Destrée, A, Peng, M, Williams, D, Ainsworth, JR, Webster, AR, Leroy, BP, Moore, AT, De Baere, E
المصدر: Scientific Reports , 10 (1) , Article 1289. (2020)
مصطلحات موضوعية: Hereditary eye disease, Molecular medicine
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10091943/1/s41598-019-57338-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10091943Test/
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5
المؤلفون: Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.
المساهمون: Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
المصدر: Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018Test
Genetics in Medicine, 25, 4مصطلحات موضوعية: Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407eTest
https://doi.org/10.1016/j.gim.2023.100018Test -
6دورية أكاديمية
المؤلفون: Van de Sompele, S, Smith, C, Karali, M, Corton, M, Van Schil, K, Peelman, F, Cherry, T, Rosseel, T, Verdin, H, Derolez, J, Van Laethem, T, Khan, KN, McKibbin, M, Toomes, C, Ali, M, Torella, A, Testa, F, Jimenez, B, Simonelli, F, De Zaeytijd, J, Van den Ende, J, Leroy, BP, Coppieters, F, Ayuso, C, Inglehearn, CF, Banfi, S, De Baere, E
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/138187/20/s41436-018-0345-5.pdfTest; Van de Sompele, S, Smith, C orcid.org/0000-0001-8320-5105 , Karali, M et al. (24 more authors) (2019) Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genetics in Medicine, 21 (6). pp. 1319-1329. ISSN 1098-3600
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7دورية أكاديمية
المؤلفون: Van de Sompele, S, Smith, C, Karali, M, Corton, M, Van Schil, K, Peelman, F, Cherry, T, Rosseel, T, Verdin, H, Derolez, J, Van Laethem, T, Khan, KN, McKibbin, M, Toomes, C, Ali, M, Torella, A, Testa, F, Jimenez, B, Simonelli, F, De Zaeytijd, J, Van den Ende, J, Leroy, BP, Coppieters, F, Ayuso, C, Inglehearn, CF, Banfi, S, De Baere, E
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/141531/7/s41436-018-0392-y.pdfTest; Van de Sompele, S, Smith, C, Karali, M et al. (24 more authors) (2019) Correction to: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genetics in Medicine, 21 (4). p. 1028. ISSN 1098-3600
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8دورية أكاديمية
المؤلفون: Baetens, D, Guran, T, Mendonca, BB, Gomes, NL, De Cauwer, L, Peelman, F, Verdin, H, Vuylsteke, M, Linden, M, Stoop, Hans, Looijenga, LHJ (Leendert), De Bosscher, K, Cools, M, De Baere, E
المصدر: Baetens , D , Guran , T , Mendonca , BB , Gomes , NL , De Cauwer , L , Peelman , F , Verdin , H , Vuylsteke , M , Linden , M , Stoop , H , Looijenga , LHJ , De Bosscher , K , Cools , M & De Baere , E 2018 , ' Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development ' , Genetics in Medicine , vol. 20 , no. 7 , pp. 717-727 . https://doi.org/10.1038/gim.2017.163Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/gim.2017.163Test
https://pure.eur.nl/en/publications/220c5479-b43a-4b60-8f7a-db3522d3bd2cTest
https://pure.eur.nl/ws/files/47943591/gim.2017.163.pdfTest
http://hdl.handle.net/1765/114024Test -
9دورية أكاديمية
المؤلفون: Baetens, D. (Dorien), Guran, T. (Tulay), Mendonça, B.B. (Berenice), Gomes, N.L., De Cauwer, L. (Lode), Peelman, F. (Frank), Verdin, H. (Hanna), Vuylsteke, M. (Marnik), Linden, M. (Malaïka) van der, Stoop, J.A. (Hans), Looijenga, L.H.J. (Leendert), De Boscher, K. (Karolien), Cools, M.B.C.M. (Martine), De Baere, E. (Elfride)
المصدر: Genetics in Medicine vol. 20 no. 7, pp. 717-727
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/114024Test; urn:hdl:1765/114024
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10دورية أكاديمية
المؤلفون: Baetens, D., Mendonça, B.B., Verdin, H., Cools, M., De Baere, E.
المساهمون: Fonds Wetenschappelijk Onderzoek
المصدر: Clinical Genetics ; volume 91, issue 2, page 163-172 ; ISSN 0009-9163 1399-0004
النص الكامل