Zobrazeno 1 - 10
of 197
pro vyhledávání: '"Shaffer, L. G."'
Autor:
SHAFFER, L. G.
Publikováno v:
The Journal of Education, 1919 Jun . 8925 (2235), 686-687.
Externí odkaz:
https://www.jstor.org/stable/42828004
Autor:
Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P, Mercier, S, David, A, Le Caignec, C, de Pontual, L, Pipiras, E, Jacquette, A, Keren, B, Gilbert Dussardier, B, Bilan, F, Goldenberg, A, Chambon, P, Toutain, A, Till, M, Sanlaville, D, Leube, B, Royer Pokora, B, Grabe, Hj, Schmidt, Co, Schurmann, C, Homuth, G, Thorleifsson, G, Thorsteinsdottir, U, Bernardini, L, Novelli, A, Micale, L, Merla, G, Zollino, M, Mari, Francesca, Rizzo, Cl, Renieri, Alessandra, Silengo, M, Vulto van Silfhout AT, Schouten, M, Pfundt, R, de Leeuw, N, Vansenne, F, Maas, Sm, Barge Schaapveld DQ, Knegt, Ac, Stadheim, B, Rodningen, O, Houge, G, Price, S, Hawkes, L, Campbell, C, Kini, U, Vogt, J, Walters, R, Blakemore, A, Gusella, Jf, Shen, Y, Scott, D, Bacino, Ca, Tsuchiya, K, Ladda, R, Sell, S, Asamoah, A, Hamati, Ai, Rosenfeld, Ja, Shaffer, Lg, Mitchell, E, Hodge, Jc, Beckmann, Js, Jacquemont, S, Reymond, A, Ewans, Lj, Mowat, D, Walker, J, Amor, Dj, Esch, Hv, Leroy, P, Bamforth, Js, Babu, D, Isidor, B, Didonato, N, Hackmann, K, Passeggeri, M, Haeringen, Av, Smith, R, Ellingwood, S, Farber, Dm, Puri, V, Zadeh, N, Weaver, Dd, Miller, M, Wilks, T, Jorgez, Cj, Lafayette, D
Publikováno v:
Molecular Psychiatry
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84
Contains fulltext : 174530.pdf (Publisher’s version ) (Open Access) Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 2
Akademický článek
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Autor:
Warburton, D., Lange, K., Carpenter, N. J., Erdman, C., Rao, K. W., Barlow, G. M., Lott, I. T., Tirosh-Wagner, T., Snyder, M., Doran, E., Kasowski, M., Korbel, J. O., Chen, X.-N., Grubert, F., Gao, M. C., Cohen, M. Y., Van Riper, A. J., Sobel, E. M., Pettenati, M. J., Gerstein, M. B., Lewin, S. O., Urban, A. E., Shaffer, L. G., Shohat, M., Pueschel, S. M., Moeschler, J. B., Falik-Zaccai, T., Dai, L., Weissman, S., McGillivray, B. C., Aylsworth, A. S., Clark, R. D.
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d04a5f646d4a958b37349f50e78a6c30
Autor:
Lott, I. T., Dai, L., Urban, A. E., Tirosh-Wagner, T., Snyder, M., Shaffer, L. G., Korenberg, J. R., Korbel, J. O., Doran, E., Ezgu, FATİH SÜHEYL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10046::d1ca68edd9b70ec6d46ff7c66aa166cb
https://avesis.gazi.edu.tr/publication/details/4b38009c-cf0c-480c-8b2a-24456c4b920a/oai
https://avesis.gazi.edu.tr/publication/details/4b38009c-cf0c-480c-8b2a-24456c4b920a/oai
A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bebcd09aae9e537e166750d707da1219
https://europepmc.org/articles/PMC1715890/
https://europepmc.org/articles/PMC1715890/
Autor:
Bartsch, O., wim wuyts, Wim Van Hul, Hecht, J. T., Meinecke, P., Hogue, D., Werner, W., Zabel, B., Hinkel, G. K., Powell, C. M., Shaffer, L. G., Willems, P.
Publikováno v:
The American journal of human genetics
University of Antwerp
University of Antwerp
To investigate the frequency of deletions of the elastin gene in patients with Williams syndrome (WS), we screened 44 patients by both FISH and PCR amplification of a dinucleotide repeat polymorphism. FISH was performed using cosmids containing eithe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3b9e06ee1555d66f64c383dfa1c14f4
https://europepmc.org/articles/PMC1801441/
https://europepmc.org/articles/PMC1801441/
Autor:
Chen, K S, Gunaratne, P H, Hoheisel, J D, Young, I G, Miklos, G L, Greenberg, F, Shaffer, L G, Campbell, H D, Lupski, J R
The Smith-Magenis syndrome (SMS) appears to be a contiguous-gene-deletion syndrome associated with a proximal deletion of the short arm of chromosome 17 in band p11.2. The spectrum of clinical findings includes short stature, brachydactyly, developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e251838c2519521e057f5d3f8cb234b8
https://europepmc.org/articles/PMC1801336/
https://europepmc.org/articles/PMC1801336/
Akademický článek
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