لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Ishida, M., Cullup, T., Boustred, C., James, C., Docker, J., English, C., Lench, N., Copp, A.J., Moore, G.E., Greene, N.D.E., Stanier, P.

المصدر: Clinical Genetics

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Anencephaly, targeted exome sequencing, Skull, Epistasis, Genetic, Original Articles, Disease Models, Animal, Mice, Phenotype, neural tube defects, Pregnancy, molecular diagnosis, Mutation, Exome Sequencing, Animals, Humans, Original Article, Female, craniorachischisis, Spinal Dysraphism, Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::86ddd273e48df6708fbbe257974f6ba3
http://europepmc.org/articles/PMC5887939

المؤلفون: Lench, N. J., Telford, Elizabeth A. R., High, Alec S., Markham, Alexander F., Wicking, Carol, Wainwright, Brandon J.

المصدر: Human Genetics. September 1997 100(5-6):497-502

المؤلفون: Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.

المساهمون: Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Denni, Djémié, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thoma, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nichola, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Møller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke, Zuffardi, Orsetta

المصدر: Epilepsia

مصطلحات موضوعية: epilepsy gene, Epilepsy, DNA Copy Number Variations, Genotype, Comorbidity, array CGH, copy number variants, epilepsy genes, SNP array, Phenotype, Neurology, mental disorders, Full‐length Original Research, Humans, copy number variant, Genetic Predisposition to Disease, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7bdb393e6939254f9400f7305e012582
http://hdl.handle.net/11567/1021944

المؤلفون: Andersen, S. E., Lench, N. J., Markham, A. F.

المصدر: Mammalian Genome: Incorporating Mouse Genome. October 1996 7(10):780-783

المؤلفون: Robinson, P. A., Leek, J. P., Thompson, J., Carr, I. M., Bailey, A., Moynihan, T. P., Coletta, P. L., Lench, N. J., Markham, A. F.

المصدر: Mammalian Genome: Incorporating Mouse Genome. October 1995 6(10):725-731

المؤلفون: Lench, N. J., Macadam, Robert, Markham, Alexander F.

المصدر: Human Genetics. March 1997 99(4):547-549

المؤلفون: Carter, J., Brittain, H., Morrogh, D., Lench, N., Waters, J. J.

المصدر: Case Reports in Genetics.

مصطلحات موضوعية: Article Subject

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=hindawi_publ::0e83f7c946f42f3043a785eed89dc1dc

المؤلفون: Kinsler, VA, Drury, S, Khan, A, Waelchli, R, Rukaite, G, Barnicoat, A, Lench, N, Harper, JI, O'Shaughnessy, RFL

المصدر: The British Journal of Dermatology

مصطلحات موضوعية: Adult, Male, Humans, Membrane Proteins, Skin Diseases, Genetic, Female, Proto-Oncogene Proteins c-mdm2, Ichthyosiform Erythroderma, Congenital, Child, Frameshift Mutation, Research Letters, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f7caacecc43e7b64065f157c28caf2dc
http://europepmc.org/articles/PMC4303979

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.