المؤلفون: Stankiewicz, P., Kulkarni, S., Dharmadhikari, A.V., Sampath, S., Bhatt, S.S., Shaikh, T.H., Xia, Z., Pursley, A.N., Cooper, M.L., Shinawi, M., Paciorkowski, A.R., Grange, D.K., Noetzel, M.J., Saunders, S., Simons, P., Summar, M., Lee, B., Scaglia, F., Fellmann, F., Martinet, D., Beckmann, J.S., Asamoah, A., Platky, K., Sparks, S., Martin, A.S., Madan-Khetarpal, S., Hoover, J., Medne, L., Bonnemann, C.G., Moeschler, J.B., Vallee, S.E., Parikh, S., Irwin, P., Dalzell, V.P., Smith, W.E., Banks, V.C., Flannery, D.B., Lovell, C.M., Bellus, G.A., Golden-Grant, K., Gorski, J.L., Kussmann, J.L., McGregor, T.L., Hamid, R., Pfotenhauer, J., Ballif, B.C., Shaw, C.A., Kang, S.H., Bacino, C.A., Patel, A., Rosenfeld, J.A., Cheung, S.W., Shaffer, L.G.

المصدر: Human Mutation, vol. 33, no. 1, pp. 165-179

مصطلحات موضوعية: Abnormalities, Multiple/genetics, Child, Preschool, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 10, DNA Copy Number Variations, Developmental Disabilities/complications, Developmental Disabilities/genetics, Female, Genetic Variation, Homologous Recombination, Humans, In Situ Hybridization, Fluorescence, Infant, Intellectual Disability/complications, Intellectual Disability/genetics, Male, Nerve Growth Factors/genetics, Oligonucleotide Array Sequence Analysis, Penetrance, Segmental Duplications, Genomic/genetics, Sequence Deletion, Vesicular Acetylcholine Transport Proteins/genetics

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/21948486; info:eu-repo/semantics/altIdentifier/eissn/1098-1004; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_821E7FE324C61; https://serval.unil.ch/notice/serval:BIB_821E7FE324C6; https://serval.unil.ch/resource/serval:BIB_821E7FE324C6.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_821E7FE324C6
https://doi.org/10.1002/humu.21614
https://serval.unil.ch/resource/serval:BIB_821E7FE324C6.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_821E7FE324C61

المؤلفون: Gorman, K.M., Meyer, E., Grozeva, D., Spinelli, E., McTague, A., Sanchis-Juan, A., Carss, K.J., Bryant, E., Reich, A., Schneider, A.L., Pressler, R.M., Simpson, M.A., Debelle, G.D., Wassmer, E., Morton, J., Sieciechowicz, D., Jan-Kamsteeg, E., Paciorkowski, A.R., King, M.D., Cross, J.H.

المصدر: http://dx.doi.org/10.1016/j.ajhg.2019.03.005.

مصطلحات موضوعية: epilepsy, developmental and epileptic encephalopathy (DEE), epilepsy-dyskinesia CACNA1B, Humans, Dyskinesias, Calcium, Calcium Channels, N-Type, Pedigree, Synaptic Transmission, Mutation, Loss of Heterozygosity, Adolescent, Child, Preschool, Infant, Female, Male

Relation: American Journal of Human Genetics, 2019; 104(5):948-956; https://hdl.handle.net/2440/134149; Ahmed, M. [0000-0002-9524-7027]

الاتاحة: https://hdl.handle.net/2440/134149
https://doi.org/10.1016/j.ajhg.2019.03.005

المؤلفون: Tripathy, R., Leca, I., Dijk, T. van, Weiss, J., Bon, B.W. van, Sergaki, M.C., Gstrein, T., Breuss, M., Tian, G.L., Bahi-Buisson, N., Paciorkowski, A.R., Pagnamenta, A.T., Wenninger-Weinzierl, A., Martinez-Reza, M.F., Landler, L., Lise, S., Taylor, J.C., Terrone, G., Vitiello, G., Giudice, E. del, Brunetti-Pierri, N., D'Amico, A., Reymond, A., Voisin, N., Bernstein, J.A., Farrelly, E., Kini, U., Leonard, T.A., Valence, S., Burglen, L., Armstrong, L., Hiatt, S.M., Cooper, G.M., Aldinger, K.A., Dobyns, W.B., Mirzaa, G., Pierson, T.M., Baas, F., Chelly, J., Cowan, N.J., Keays, D.A.

المصدر: Neuron

Relation: lumc-id: 57066508; https://hdl.handle.net/1887/95894

الاتاحة: https://hdl.handle.net/1887/95894
https://doi.org/10.1016/j.neuron.2018.10.044

المؤلفون: Brunetti-Pierri, N., Paciorkowski, A.R., Ciccone, R., Mina, E. della, Bonaglia, M.C., Borgatti, R., Schaaf, C.P., Sutton, V.R., Xia, Z.L., Jelluma, N., Ruivenkamp, C., Bertrand, M., Ravel, T.J.L. de, Jayakar, P., Belli, S., Rocchetti, K., Pantaleoni, C., D'Arrigo, S., Hughes, J., Cheung, S.W., Zuffardi, O., Stankiewicz, P.

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: FOXG1 developmental delay speech delay infantile spasms array CGH rett-syndrome copy number deletion family males haploinsufficiency microduplication microarray features patient

Relation: lumc-id: 4455914; https://hdl.handle.net/1887/108675

الاتاحة: https://hdl.handle.net/1887/108675
https://doi.org/10.1038/ejhg.2010.142

المؤلفون: Paciorkowski, A.R., Shafrir, Y., Hrivnak, J., Patterson, M.C., Tennison, M.B., Clark, H.B., Gomez, C.M.

المصدر: Neurology ; volume 77, issue 11, page 1055-1060 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0b013e31822e5627
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0b013e31822e5627