Zobrazeno 1 - 10
of 1 026
pro vyhledávání: '"Hamel BCJ"'
Autor:
Lugtenberg, Dorien, ZangrandeVieira, Luiz, Kirchhoff, Maria, Whibley, Annabel C., Oudakker, Astrid R., Kjaergaard, Susanne, ViannaMorgante, Angela M., Kleefstra, Tjitske, Ruiter, Mariken, Jehee, Fernanda S., Ullmann, Reinhard, Schwartz, Charles E., Stratton, Michael, Raymond, F. Lucy, Veltman, Joris A., Vrijenhoek, Terry, Pfundt, Rolph, SchuursHoeijmakers, Janneke H.M., HehirKwa, Jayne Y., Froyen, Guy, Chelly, Jamel, Ropers, Hans Hilger, Moraine, Claude, Gècz, Jozef, Knijnenburg, Jeroen, Kant, Sarina G., Hamel, Ben C.J., Rosenberg, Carla, van Bokhoven, Hans, de Brouwer, Arjan P.M.
Publikováno v:
American Journal of Medical Genetics. Part A; March 2010, Vol. 152 Issue: 3 p638-645, 8p
Publikováno v:
American Journal of Medical Genetics. Part A; October 2009, Vol. 149 Issue: 10 p2311-2316, 6p
Autor:
Toydemir, Reha M., Chen, Harold, Proud, Virginia K., Martin, Rick, van Bokhoven, Hans, Hamel, Ben C. J., Tuerlings, Joep H., Stratakis, Constantine A., Jorde, Lynn B., Bamshad, Michael J.
Publikováno v:
American Journal of Medical Genetics. Part A; November 2006, Vol. 140 Issue: 22 p2387-2393, 7p
Autor:
Vasilaki, Eleftheria1,2 (AUTHOR) eleftheria.vasilaki@scilifelab.uu.se, Bai, Yu1 (AUTHOR), Ali, Mohamad Moustafa1 (AUTHOR), Sundqvist, Anders1,3 (AUTHOR), Moustakas, Aristidis1 (AUTHOR), Heldin, Carl-Henrik1 (AUTHOR) c-h.heldin@imbim.uu.se
Publikováno v:
Cell Communication & Signaling. 8/23/2021, Vol. 22 Issue 1, p1-18. 18p.
Autor:
Dekker MCJ; Department of Paediatrics & Child Health, Kilimanjaro Christian Medical Centre, Moshi, United Republic of Tanzania., Sadiq AM; Department of Radiology, Kilimanjaro Christian Medical Centre, Moshi, United Republic of Tanzania., Jusabani MA; Department of Orthopaedic Surgery, Kilimanjaro Christian Medical Centre, Moshi, United Republic of Tanzania., Mdavire VJ; Department of Paediatrics & Child Health, Kilimanjaro Christian Medical Centre, Moshi, United Republic of Tanzania., Baas F; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Morton DH; Clinic for Special Children, Strasburg, Pennsylvania., Hamel BCJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Oct; Vol. 179 (10), pp. 2034-2038. Date of Electronic Publication: 2019 Jul 26.
Publikováno v:
Amyloid:International journal of experimental and clinical investigation, 4(2), 112-117. Taylor & Francis Ltd
A Dutch kindred with transthyretin Cys 114 related familial amyloidotic polyneuropathy is reported. The finding of early involvement of the heart is of great concern and of special relevance to the optimal timing for liver transplantation. To date, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::94931073e1203cffd05919f750abd1b4
https://research.rug.nl/en/publications/56b490dc-b831-4769-86b1-ebeb28700fe2
https://research.rug.nl/en/publications/56b490dc-b831-4769-86b1-ebeb28700fe2
Autor:
Kleefstra, T, Yntema, HG, Oudakker, AR, Romein, T, Sistermans, E, Nillessen, W, van Bokhoven, H, de Vries, BBA, Hamel, BCJ
Publikováno v:
Clinical Genetics; May2002, Vol. 61 Issue 5, p359-362, 4p
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 29(11), 791-793. BMJ PUBLISHING GROUP
We describe four myotonic dystrophy (DM) patients who developed recurrent intestinal pseudo-obstruction. Some episodes were associated with gastroenteritis, while abdominal crowding may have occurred in one case during the third trimester of pregnanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::2d300a6b4d856e1c2d22273da358843b
https://research.rug.nl/en/publications/beaf0ea1-10a7-48fb-86c1-2ecf69eeb69a
https://research.rug.nl/en/publications/beaf0ea1-10a7-48fb-86c1-2ecf69eeb69a
Autor:
Shao ER; Department of Internal Medicine, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania.; Department of Internal Medicine, Kilimanjaro Christian Medical University College, Tumaini University Makumira, P.O. Box 2240, Moshi, Tanzania.; Better Human Health Foundation, P.O. Box 1348, Moshi, Tanzania.; Imagedoctors International, P.O. Box 16341, Arusha, Tanzania., Kiyegi LF; Department of Internal Medicine, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania.; Department of Internal Medicine, Kilimanjaro Christian Medical University College, Tumaini University Makumira, P.O. Box 2240, Moshi, Tanzania., Mwasamwaja AO; Department of Internal Medicine, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania.; Department of Internal Medicine, Kilimanjaro Christian Medical University College, Tumaini University Makumira, P.O. Box 2240, Moshi, Tanzania.; Imagedoctors International, P.O. Box 16341, Arusha, Tanzania., Kilonzo K; Department of Internal Medicine, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania.; Department of Internal Medicine, Kilimanjaro Christian Medical University College, Tumaini University Makumira, P.O. Box 2240, Moshi, Tanzania., Hamel BCJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Publikováno v:
Case reports in genetics [Case Rep Genet] 2017; Vol. 2017, pp. 2348045. Date of Electronic Publication: 2017 Apr 09.
Publikováno v:
Clinical Genetics; Jun1998, Vol. 53 Issue 6, p440-446, 7p