Journal of Medical Genetics

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A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
Journal of Medical Genetics - Tập 32 Số 4 - Trang 257-263 - 1995
Lisbeth Tranebjærg, Charles E. Schwartz, H Eriksen, Sten Andréasson, Vesna Ponjavic, Andy Dahl, Roger E. Stevenson, Melanie May, Fernando Arena, David Barker
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
Journal of Medical Genetics - Tập 45 Số 2 - Trang 93-99
Melanie M. Hagleitner, Arjan C. Lankester, P Maraschio, Maj Hultén, J. P. Fryns, Catharina Schuetz, Giorgio Gimelli, E. Graham Davies, A Gennery, B. H. Belohradsky, Ronald de Groot, E.J.A. Gerritsen, Teresa Mattina, P. J. Howard, Anders Fasth, İsmail Reisli, Dieter Furthner, Mary Slatter, A J Cant, G Cazzola, P J van Dijken, Marcel van Deuren, Jessica C. de Greef, Silvère M. van der Maarel, Corry M.R. Weemaes
Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis
Journal of Medical Genetics - Tập 37 Số 6 - Trang 401-409 - 2000
Samantha J.L. Knight
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
Journal of Medical Genetics - Tập 38 Số 3 - Trang 145-150 - 2001
Bert B.A. de Vries
Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.
Journal of Medical Genetics - Tập 31 Số 4 - Trang 280-286 - 1994
Roelof‐Jan Oostra, P. A. Bolhuis, Frits A. Wijburg, G Zorn-Ende, E. M. Bleeker‐Wagemakers
The revised Ghent nosology for the Marfan syndrome
Journal of Medical Genetics - Tập 47 Số 7 - Trang 476-485 - 2010
Bart Loeys, Harry C. Dietz, Alan C. Braverman, Bert Callewaert, Julie De Backer, Richard B. Devereux, Yvonne Hilhorst‐Hofstee, Guillaume Jondeau, Laurence Faivre, Dianna M. Milewicz, Reed E. Pyeritz, Paul D. Sponseller, B P Wordsworth, Anne M. De Paepe
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
Journal of Medical Genetics - Tập 35 Số 8 - Trang 672-673 - 1998
Cécile Dumanchin, Alexis Brice, Dominique Campion, Didier Hannequin, Cosette Martin, Viviane Moreau, Y. Agid, María Martínez, Françoise Clerget‐Darpoux, Thierry Frébourg
Splicing in action: assessing disease causing sequence changes
Journal of Medical Genetics - Tập 42 Số 10 - Trang 737-748 - 2005
Diana Baralle
A family study of vesicoureteric reflux
Journal of Medical Genetics - Tập 15 Số 2 - Trang 85-96 - 1978
Alejandro D. Vargas, Kathryn Evans, P.G. Ransley, Andrew R. Rosenberg, D L Rothwell, Thomas Sherwood, D. Innes Williams, T M Barratt, C. O. Carter
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.
Journal of Medical Genetics - Tập 26 Số 5 - Trang 314-319 - 1989
Kati Elima, Ilkka Kaitila, L Mikonoja, U Elonsalo, Leena Peltonen, Eero Vuorio
Tổng số: 139   
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