Výsledky vyhledávání - Trinh Hermanns‐Lê
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Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-... Autor Fransiska Malfait, Delfien Syx, Philip Vlummens, Sofie Symoens, Sheela Nampoothiri, Trinh Hermanns‐Lê, Lut Van Laer, Anne De Paepe
Vydáno 2010Artigo -
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Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood Autor Fransiska Malfait, Sofie Symoens, Julie De Backer, Trinh Hermanns‐Lê, Natzi Sakalihasan, Charles M. Lapière, Paul Coucke, Anne De Paepe
Vydáno 2007Artigo -
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Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic <i>BMP1</i> Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta Autor Delfien Syx, Brecht Guillemyn, Sofie Symoens, Ana Berta Sousa, Ana Medeira, Margo Whiteford, Trinh Hermanns‐Lê, Paul Coucke, Anne De Paepe, Fransiska Malfait
Vydáno 2015Artigo
Vyhledávací nástroje:
Související témata
Medicine
Biology
Ehlers–Danlos syndrome
Genetics
Pathology
Anatomy
Dermatology
Gene
Mutation
Alpha (finance)
Construct validity
Endocrinology
Internal medicine
Joint hypermobility
Paleontology
Patient satisfaction
Amino acid
Arginine
Asymptomatic
Biochemistry
Cell culture
Cleavage (geology)
Collagen, type I, alpha 1
Connective tissue
Cysteine
Dermis
Disease gene identification
Enzyme
Exome sequencing
Extracellular matrix