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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 Article
by Brownstein, Catherine A and Beggs, Alan H and Homer, Nils and Merriman, Barry and Yu, Timothy W and Flannery, Katherine C and DeChene, Elizabeth T and Towne, Meghan C and Savage, Sarah K and Price, Emily N and Holm, Ingrid A and Luquette, Lovelace J and Lyon, Elaine and Majzoub, Joseph and Neupert, Peter and McCallie, David and Szolovits, Peter and Willard, Huntington F and Mendelsohn, Nancy J and Temme, Renee and Finkel, Richard S and Yum, Sabrina W and Medne, Livija and Sunyaev, Shamil R and Adzhubey, Ivan and Cassa, Christopher A and De Bakker, Paul I.W and Duzkale, Hatice and Dworzyński, Piotr and Fairbrother, William and Francioli, Laurent and Funke, Birgit H and Giovanni, Monica A and Handsaker, Robert E and Lage, Kasper and Lebo, Matthew S and Lek, Monkol and Leshchiner, Ignaty and MacArthur, Daniel G and McLaughlin, Heather M and Murray, Michael F and Pers, Tune H and Polak, Paz P and Raychaudhuri, Soumya and Rehm, Heidi L and Soemedi, Rachel and Stitziel, Nathan O and Vestecka, Sara and Supper, Jochen and Gugenmus, Claudia and Klocke, Bernward and Hahn, Alexander and Schubach, Max and Menzel, Mortiz and Biskup, Saskia and Freisinger, Peter and Deng, Mario and Braun, Martin and Perner, Sven and Smith, Richard J.H and Andorf, Janeen L and Huang, Jian and Ryckman, Kelli and Sheffield, Val C and Stone, Edwin M and Bair, Thomas and Ann Black-Ziegelbein, E and Braun, Terry A and Darbro, Benjamin and DeLuca, Adam P and Kolbe, Diana L and Scheetz, Todd E and Shearer, Aiden E and Sompallae, Rama and Wang, Kai and Bassuk, Alexander G and Edens, Erik and Mathews, Katherine and Moore, Steven A and Shchelochkov, Oleg A and Trapane, Pamela and Bossler, Aaron and Campbell, Colleen A and Heusel, Jonathan W and Kwitek, Anne and Maga, Tara and Panzer, Karin and Wassink, Thomas and Van Daele, Douglas and Azaiez, Hela and Booth, Kevin and Meyer, Nic and Segal, Michael M and Williams, Marc S and Tromp, Gerard and White, Peter and Corsmeier, Donald and Fitzgerald-Butt, Sara and Herman, Gail and Lamb-Thrush, Devon and ... and Science for Life Laboratory, SciLifeLab and Centra and Skolan för bioteknologi (BIO) and KTH and Genteknologi
Genome Biology, ISSN 1474-7596, 2014, Volume 15, Issue 3, pp. R53 - R53
Journal Article
Cell, ISSN 0092-8674, 2011, Volume 146, Issue 6, pp. 889 - 903
Journal Article
Human Mutation, ISSN 1059-7794, 07/2016, Volume 37, Issue 7, pp. 653 - 660
Journal Article
Journal of the International Neuropsychological Society, ISSN 1355-6177, 2014, Volume 20, Issue 1, pp. 88 - 98
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2014, Volume 164, Issue 2, pp. 561 - 561
Journal Article
Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 10, pp. 1142 - 1154
Journal Article
Journal Article