Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Els Van Hul"'
Autor:
Erik C. Thorland, Marissa S. Ellingson, Dusica Babovic-Vuksanovic, Patrick R. Blackburn, Els Van Hul, Erin Conboy, Matthew J. Ferber, Matthew Webley, Wim Wuyts, Eric W. Klee, Filippo Vairo, Ilse M. van der Werf, Gavin R. Oliver
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine
Molecular genetics & genomic medicine
Background We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas. Methods The patient underwent extensive genetic testing and analysis in a
Publikováno v:
The journal of molecular diagnostics
Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder characterized by the formation of multiple cartilage-capped protuberances. MO is genetically heterogeneous and is associated with mutations in the EXT1 and EXT2 genes. In this s
Publikováno v:
Revue du Rhumatisme. 68:618-625
Resume Objectif. Decrire une variante legere d’osteopetrose autosomique dominante de type II (ADO II) au sein d’une famille comportant neuf sujets atteints. Methodes. Description clinique et radiologique. Les resultats ont ete compares a ceux obt
Autor:
Seher, Kasapkara Cigdem, Ilyas, Okur, Aynur, Kucukcongar, Leyla, Tumer, Els Van, Hul, Suheyl, Ezgu Fatih, Arzu, Okur, Wim, Wuyts, Avni, Sarac, Alev, Hasanoglu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10046::7137b197a42f62773d7350d1cd79f697
https://avesis.gazi.edu.tr/publication/details/bff8298b-00e4-48e7-b95d-07ea6aa5a775/oai
https://avesis.gazi.edu.tr/publication/details/bff8298b-00e4-48e7-b95d-07ea6aa5a775/oai
Autor:
Radoslava Vazharova, Briguita Ivanova Radeva, Els Van Hul, Borislav Yordanov Vladimirov, Ivo Kremensky, Malina Kirilova Stancheva-Ivanova, Margarita D. Apostolova, Todor Petrov Sokolov, Wim Wuyts
Publikováno v:
Journal of inherited metabolic disease
EXT1/EXT2-CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O-xylosylglycan glycosylation. The diagnostic criteria are at least two osteochondromas of the juxta-epiphyseal regio
Autor:
Filip Vanhoenacker, Poul Erik Andersen, Jens Bollerslev, Els Van Hul, Wim Van Hul, Danny G.P. Mathysen, Jeppe Gram, Liesbeth Van Wesenbeeck
Publikováno v:
Journal of bone and mineral research
The osteopetroses are a heterogeneous group of genetic conditions characterized by increased bone density due to impaired bone resorption by osteoclasts. Within the autosomal dominant form of osteopetrosis, the radiological type I (ADOI) is character
Publikováno v:
Joint bone spine
Purpose. To describe a large family including nine subjects with a mild phenotypic variant of type II autosomal dominant osteopetrosis (ADO II). Methods. Clinical and radiological description. Results are compared to those previously obtained in 42 p
Autor:
Wim Wuyts, Els Van Hul, J. Gram, Filip Vanhoenacker, Jens Bollerslev, Olivier Bénichou, Patrick Willems, Wim Van Hul
Publikováno v:
The American journal of human genetics
Summary Albers-Schonberg disease, the classical form of os-teopetrosis, is an autosomal dominant condition with generalized increased skeletal density due to reduced bone resorption. Characteristic radiological findings are generalized osteosclerosis
Autor:
Frederik G. Dikkers, Els Van Hul, Patrick Willems, Henk Obee, Wim Van Hul, Guy Van Camp, Wendy Balemans, Robert J. Stokroos, Filip Vanhoenacker, Peter Hildering
Publikováno v:
American Journal of Human Genetics, 62(2), 391-399. CELL PRESS
The American journal of human genetics
The American journal of human genetics
Van Buchem disease (hyperostosis corticalis generalisata; OMIM 239100 [http://www3.ncbi.nlm.nih. gov:80/htbin-post/Omim/dispmim?239100]) is an autosomal recessive disorder characterized by hyperostosis of the skull, mandible, clavicles, ribs, and dia
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