Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Grootscholten, P M"'
Publikováno v:
Human Genetic Disease Analysis: A Practical Approach.
Externí odkaz:
https://doi.org/10.1093/oso/9780199633098.003.0003
Akademický článek
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Autor:
Cobben, J. M., Scheffer, H., de Visser, M., van der Steege, G., Verhey, J. B., Osinga, J., Burton, M., Mensink, R. G., Grootscholten, P. M., ten Kate, L. P., Buys, C. H.
Publikováno v:
European Journal of Human Genetics, 4(4), 231-236. Nature Publishing Group
European journal of human genetics, 4(4), 231-236. Nature Publishing Group
European journal of human genetics, 4(4), 231-236. Nature Publishing Group
With the localisation of the gene for the autosomal recessive forms of proximal spinal muscular atrophies (SMA) to the chromosomal region 5q13 and the later detection of homozygous deletions of the SMN gene located in this region, prenatal prediction
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5c9e3927cb5f3888e555a0c5344dc090
https://research.rug.nl/en/publications/03474efb-e12e-42c1-ad3e-d4496b102636
https://research.rug.nl/en/publications/03474efb-e12e-42c1-ad3e-d4496b102636
Autor:
Ibrahim, Faisal1 (AUTHOR), Velayutham, Dinesh2 (AUTHOR), Alsharshani, Mohamed1 (AUTHOR), AlAlami, Usama3 (AUTHOR), AlDewik, Manar4 (AUTHOR), Abuarja, Tala4 (AUTHOR) tala2000aug@gmail.com, Al Rifai, Hilal5 (AUTHOR), Al‐Dewik, Nader I.4,5,6,7,8 (AUTHOR) nader.al-dewik@kingston.ac.uk
Publikováno v:
Molecular Genetics & Genomic Medicine. Dec2023, Vol. 11 Issue 12, p1-11. 11p.
Autor:
Gospe Jr., S. M., Lazaro, R. P., Lava, N. S., Grootscholten, P. M., Scott, M. O., Fischbeck, K. H.
Publikováno v:
Neurology; Oct1989, Vol. 39 Issue 10, p1277-1280, 4p
Autor:
Bakker, E, Veenema, H, Den Dunnen, J T, van Broeckhoven, C, Grootscholten, P M, Bonten, E J, van Ommen, G J, Pearson, P L
Publikováno v:
Journal of Medical Genetics; Sep1989, Vol. 26 Issue 9, p553-559, 7p, 6 Diagrams, 2 Charts
Autor:
Nishio, Hisahide1 (AUTHOR) nishio@reha.kobegakuin.ac.jp, Niba, Emma Tabe Eko2 (AUTHOR) niba@juntendo.ac.jp, Saito, Toshio3 (AUTHOR) saito.toshio.cq@mail.hosp.go.jp, Okamoto, Kentaro4 (AUTHOR) kentaro206@gmail.com, Takeshima, Yasuhiro5 (AUTHOR) ytake@hyo-med.ac.jp, Awano, Hiroyuki6 (AUTHOR) awano@tottori-u.ac.jp
Publikováno v:
International Journal of Molecular Sciences. Aug2023, Vol. 24 Issue 15, p11939. 38p.
Autor:
Bakker, E., Bonten, E. J., Veenema, H., Dunnen, J. T., Grootscholten, P. M., Ommen, G. J. B., Pearson, P. L.
Publikováno v:
Journal of Inherited Metabolic Disease; March 1989, Vol. 12 Issue: Supplement 1 p174-190, 17p
Autor:
Gospe, S. M., Lazaro, R. P., Lava, N. S., Grootscholten, P. M., Scott, M. O., Fischbeck, K. H.
Publikováno v:
Neurology (Ovid); October 1989, Vol. 39 Issue: 10 p1277-1280, 4p
Autor:
Pasini, B., Robert Hofstra, Yin, L., Bocciardi, R., Santamaria, G., Grootscholten, P. M., Ceccherini, I., Patrone, G., Priolo, M., Buys, C. H. C. M., Romeo, G.
Publikováno v:
Scopus-Elsevier
ONCOGENE, 11(9), 1737-1743. Nature Publishing Group
ONCOGENE, 11(9), 1737-1743. Nature Publishing Group
The RET proto-oncogene, a transmembrane tyrosine kinase receptor, is involved in the development of at least five different disease phenotypes. RET is activated through somatic rearrangements in a number of cases of papillary thyroid carcinoma while
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a25b5ebbd74e8359c8cb7826fca6693e
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028802393&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028802393&partnerID=MN8TOARS