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Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 867 - 876
Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or... 
genotype–phenotype correlation | NF1 | p.Met992del | learning difficulties | neurofibroma | GENETICS & HEREDITY | Genotype & phenotype | Brain cancer | Index Medicus
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 764 - 765
A correction has been published to this Article. The PDF and HTML have been updated accordingly. 
Journal Article
Journal of AAPOS, ISSN 1091-8531, 2007, Volume 11, Issue 6, pp. 620 - 621
Ectopia lentis is almost always a bilateral condition, although it may be asymmetric in some cases of Marfan syndrome.1,2 Unilateral ectopia lentis has been... 
Ophthalmology | OPHTHALMOLOGY | PEDIATRICS | MARFAN-SYNDROME | Pedigree | Humans | Child, Preschool | Female | Infant | Male | Ectopia Lentis - diagnosis | Visual Acuity | Ectopia Lentis - genetics | Index Medicus
Journal Article
The Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 1/1995, Volume 32, Issue 1, pp. 77 - 84
Eight cases of Kabuki syndrome in non-Japanese patients are presented. (Although the name Kabuki Make-up syndrome has been used to identify this condition, the... 
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 05/1997, Volume 70, Issue 1, pp. 37 - 42
Journal Article
by Bruyand, Mathias and Ryom, Lene and Shepherd, Leah and Fatkenheuer, Gerd and Grulich, Anew and Reiss, Peter and de Wit, Stéphane and D Arminio Monforte, Antonella and Furrer, Hansjakob and Pradier, Christian and Lundgren, Jens and Sabin, Caroline and Powderly, B and Shortman, N and Moecklinghoff, C and Reilly, G and Franquet, X and Ryom, L and Sabin, C. A and Kamara, D and Smith, C and Phillips, A and Mocroft, A and Tverland, J and Mansfeld, M and Nielsen, J and Raben, D and Lundgren, J. D and Salbøl Brandt, R and Rickenbach, M and Fanti, I and Krum, E and Hillebregt, M and Geffard, S and Sundström, A and Delforge, M and Fontas, E and Torres, F and McManus, H and Wright, S and Kjær, J and Sjøl, A and Meidahl, P and Helweg-Larsen, J and Schmidt Iversen, J and Kirk, O and Ross, M and Fux, C. A and Morlat, P and Moranne, O and Kesselring, A. M and Kamara, D. A and Weber, R and Pradier, C and Friis-Møller, N and Kowalska, J and Sabin, C and Law, M and d'Arminio Monforte, A and Dabis, F and Bruyand, M and Bower, M and Fätkenheuer, G and Donald, A and Grulich, A and Zaheri, S and Gras, L and Prins, J. M and Kuijpers, T. W and Scherpbier, H. J and van der Meer, J. T. M and Wit, F. W. M. N and Godfried, M. H and van der Poll, T and Nellen, F. J. B and Lange, J. M. A and Geerlings, S. E and van Vugt, M and Pajkrt, D and Bos, J. C and van der Valk, M and Grijsen, M. L and Wiersinga, W. J and Goorhuis, A and Hovius, J. W. R and Lowe, S and Oude Lashof, A and Posthouwer, D and Pronk, M. J. H and Ammerlaan, H. S. M and van der Ende, M. E and de Vries-Sluijs, T. E. M. S and Schurink, C. A. M and Nouwen, J. L and Verbon, A and Rijnders, B. J. A and van Gorp, E. C. M and van der Feltz, M and essen, G. J. A and van Rossum, A. M. C and ... and DAD Study Grp and D:A:D study group
Journal of acquired immune deficiency syndromes (1999), ISSN 1525-4135, 2015, Volume 68, Issue 5, pp. 568 - 577
Journal Article
Health Education & Behavior, ISSN 1090-1981, 2/2017, Volume 44, Issue 1, pp. 182 - 191
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2015, Volume 10, Issue 4, pp. e0121863 - e0121863
Journal Article