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2023
Mark Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
Nordenskjöld, Agneta ; Arkani, Samara ; Pettersson, Maria ; Winberg, Johanna ; Cao, Jia ; Fossum, Magdalena ; Anderberg, Magnus ^LU ; Barker, Gillian ; Holmdahl, Gundela and Lundin, Johanna (2023) In American Journal of Medical Genetics, Part A 191(2). p.378-390
- Contribution to journal › Article
2016
Mark Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
Fergelot, Patricia ; Van Belzen, Martine ; Van Gils, Julien ; Afenjar, Alexandra ; Armour, Christine M. ; Arveiler, Benoit ; Beets, Lex ; Burglen, Lydie ; Busa, Tiffany and Collet, Marie , et al. (2016) In American Journal of Medical Genetics. Part A 170(12). p.3069-3082
- Contribution to journal › Article
2014
Mark Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
Ekvall, Sara ; Sjors, Kerstin ; Jonzon, Anders ; Vihinen, Mauno ^LU ; Anneren, Goran and Bondeson, Marie-Louise (2014) In American Journal of Medical Genetics. Part A 164(3). p.579-587
- Contribution to journal › Article
2012
Mark Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients
Sorensen, Karina Meden ; El-Segaier, Milad ^LU ; Fernlund, Eva ^LU ; Errami, Ab ; Bouvagnet, Patrice ; Nehme, Nancy ; Steensberg, Jesper ; Hjortdal, Vibeke ; Soller, Maria ^LU and Behjati, Mohaddeseh , et al. (2012) In American Journal of Medical Genetics. Part A 158A(4). p.720-725
- Contribution to journal › Article
2009
Mark Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus
Tuysuz, Beyhan ; Collin, Anna ^LU ; Arapoglu, Muejde and Suyugul, Nezir (2009) In American Journal of Medical Genetics. Part A 149A(10). p.2290-2295
- Contribution to journal › Article
2007
Mark CDG-Id in two siblings with partially different phenotypes
Kranz, Christian ; Sun, Liangwu ; Eklund, Erik A ^LU ; Krasnewich, Donna ; Casey, Janet R and Freeze, Hudson H (2007) In American Journal of Medical Genetics. Part A 143A(13). p.1414-1420
- Contribution to journal › Article
2005
Mark PTPN11 mutations play a minor role in isolated congenital heart disease
Weismann, Constance G ^LU ; Hager, A ; Kaemmerer, H ; Maslen, C L ; Morris, Cynthia D ; Schranz, D ; Kreuder, J and Gelb, B D (2005) In American Journal of Medical Genetics. Part A 136A(2). p.51-146
- Contribution to journal › Article
Mark Living with a hereditary disease: Person’s with Muscular Dystrophy and their next of kin.
Boström, K and Ahlström, Gerd ^LU (2005) In American Journal of Medical Genetics. Part A 136(1). p.17-24
- Contribution to journal › Article
Mark Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
Sun, Liangwu ; Eklund, Erik A ^LU ; Van Hove, Johan L K ; Freeze, Hudson H and Thomas, Janet A (2005) In American Journal of Medical Genetics. Part A 137A(1). p.22-26
- Contribution to journal › Article
2004
Mark Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS).
Källén, Karin ^LU ; Robert, Elisabeth ; Castilla, Eduardo E ; Mastroiacovo, Pierpaolo and Källén, Bengt ^LU (2004) In American Journal of Medical Genetics. Part A 127A(1). p.26-34
- Contribution to journal › Article

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