Search Results - De Paepe, Anne
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1
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa by Callewaert, Bert (Author) , Su, Chi-Ting (Author) , Van Damme, Tim (Author) , Vlummens, Philip (Author) , Malfait, Fransiska (Author) , Vanakker, Olivier (Author) , Schulz, Bianca (Author) , Mac Neal, Meghan (Author) , Davis, Elaine C. (Author) , Lee, Joseph G. H. (Author) , Salhi, Aicha (Author) , Unger, Sheila (Author) , Heimdal, Ketil (Author) , De Almeida, Salome (Author) , Kornak, Uwe (Author) , Gaspar, Harald (Author) , Bresson, Jean-Luc (Author) , Prescott, Katrina (Author) , Gosendi, Maria E. (Author) , Mansour, Sahar (Author) , Piérard, Gérald E. (Author) , Madan-Khetarpal, Suneeta (Author) , Sciurba, Frank (Author) , Symoens, Sofie (Author) , Coucke, Paul J. (Author) , Van Maldergem, Lionel (Author) , Urban, Zsolt (Author) , De Paepe, Anne (Author) ,
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2
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder by Malfait, Fransiska (Author) , Kariminejad, Ariana (Author) , Van Damme, Tim (Author) , Gauche, Caroline (Author) , Syx, Delfien (Author) , Merhi-Soussi, Faten (Author) , Gulberti, Sandrine (Author) , Symoens, Sofie (Author) , Vanhauwaert, Suzanne (Author) , Willaert, Andy (Author) , Bozorgmehr, Bita (Author) , Kariminejad, Mohamad Hasan (Author) , Ebrahimiadib, Nazanin (Author) , Haußer-Siller, Ingrid (Author) , Huysseune, Ann (Author) , Fournel-Gigleux, Sylvie (Author) , De Paepe, Anne (Author) ,
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3
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations by Callewaert, Bert (Author) , Renard, Marjolijn (Author) , Hucthagowder, Vishwanathan (Author) , Albrecht, Beate (Author) , Haußer-Siller, Ingrid (Author) , Blair, Edward (Author) , Dias, Cristina (Author) , Albino, Alice (Author) , Wachi, Hiroshi (Author) , Sato, Fumiaki (Author) , Mecham, Robert P. (Author) , Loeys, Bart (Author) , Coucke, Paul J. (Author) , De Paepe, Anne (Author) , Urban, Zsolt (Author) ,
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Related Subjects
Adolescent
Base Sequence
Blotting, Western
CL
Child
Child, Preschool
Consanguinity
Cutis Laxa
ELN
Extracellular Matrix Proteins
Family Health
Female
Gene Expression
Humans
Infant
Latent TGF-beta Binding Proteins
Male
Microscopy, Electron
Mutation
Pedigree
Pulmonary Emphysema
Reverse Transcriptase Polymerase Chain Reaction
Sequence Analysis, DNA
Skin
Young Adult
aneurysm
connective tissue
emphysema
skin