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Biallelic variants in MESD, which encodes a WNT-signaling-related ...www.cell.com › hgg-advances › pdfExtended
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Samir Khatib,5 Mohammad-Sadegh Fallah,6 Sirous Zeinali,6,7 Fransiska Malfait,3 Sofie Symoens,3. Paul Coucke,3 Peter Witters,8 Elena Levtchenko,9 Hamideh ...
P5CS mutations identified as new target for skin rejuvenation
www.sciencedaily.com
Researchers has discovered a novel protein mutation that results in a rare premature skin aging condition. The findings shed light on the underlying mechanisms...
Business Profiles
Researchgate: Sofie Symoens
Gent, Belgium
Sofie SYMOENS | Ghent University, Gent | Center for Medical Geneticswww.researchgate.net › Ghent University › Center for Medical Genetics
www.researchgate.net
Sofie Symoens. TANGO1 (transport and Golgi organization-1 homolog) encodes a transmembrane protein, which is located at endoplasmic reticulum (ER) exit ...
Employees
Center for Medical Genetics
www.cmgg.be
Sofie Symoens + + Information; ... Center for Medical Genetics Ghent University Hospital De Pintelaan 185, …
Employees - Center for Medical Genetics
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Employees. Departmental head. Bruce Poppe. Clinical geneticist. Bert Callewaert Sofie Symoens. Nadine Van Roy. Jo Vandesompele. Postdoctoral researcher. Frauke ...
Books & Literature
Clinical and molecular characteristics of 168 probands and onlinelibrary.wiley.com › doi › abs › humu
onlinelibrary.wiley.com
Jul 15, · Sofie Symoens,. Sofie Symoens. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. Department of Biomolecular Medicine, ...
Full Text Journal Articles by Author Charlotte Gistelinck C (Page 1)pdf.manuscriptpro.com › search › Author-Charlotte-Gistelinck-C
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Search! New insights on the clinical variability of FKBP10 mutations. Osama H Essawi, Piyanoot Tapaneeyaphan, Sofie Symoens, Charlotte Gistelinck ...
Genomics and Clinical Diagnosticsbooks.google.com › books
books.google.com
Reproduced with permission from Dr Sofie Symoens, Center for Medical Genetics Ghent (CMGG), Ghent University Hospital. Figure cEDS biochemistry example ...
Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and ...books.google.com › books
books.google.com
... F. Michael Pope 6, Marco Ritelli 2, Sofie Symoens 7, Neeti Ghali 1 and Fleur S. van Dijk 1,* National Complex Ehlers-Danlos Syndrome Service London, ...
Related Documents
Mutations that alter the primary structure of type I procollagen have ...pubs.acs.org › doi › abs
pubs.acs.org
Aug 22, · 2014,,, https://doi.org B X; Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Yolanda Gyftodimou, ...
Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos ...academic.oup.com › hmg › article-abstract
academic.oup.com
Sofie Symoens,. Sofie Symoens. Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.
Muscular dystrophy with arrhythmia caused by loss-of-function ...ng.neurology.org › content › e321.abstract
ng.neurology.org
Apr 1, · ... Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, ...
CiteSeerX — A Novel Splice Variant in the N-propeptide of COL5A1...
citeseerx.ist.psu.edu
@MISC{Symoens_anovel, author = {Sofie Symoens and Fransiska Malfait and Philip Vlummens and Trinh Hermanns-lê and Delfien Syx and Anne De}, title = {A Novel …
Scientific Publications
Helical mutations in type I collagen that affect the processing of...
ojrd.biomedcentral.com
Fransiska Malfait 1 *, Sofie Symoens 1, Nathalie Goemans 2, ... Molecular mechanism of α1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: ...
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex ...
meta.science
Sofie Symoens. Researcher. Active From: -. Top Paper (2006). Aneurysm syndromes caused by mutations in the TGF-beta receptor · The New ...
Deficiency for the ER-stress transducer OASIS causes severe recessive...
ojrd.biomedcentral.com
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. Sofie Symoens 1, Fransiska Malfait 1, ...
Publications
Create a SciFeed alert for new publications - MDPIwww.mdpi.com › scifeed_display
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Aude Beyens. Alper Gezdirici. Elif Yilmaz Gulec. Lore Pottie. Silke De Feyter. Michiel Vanhooydonck. Piyanoot Tapaneeyaphan. Sofie Symoens. Bert Callewaert ...
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Hindawiwww.hindawi.com › journals
www.hindawi.com
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family. Delfien Syx,1 Sofie Symoens,1 Wouter Steyaert, ...
SciFeed - MDPI
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By following authors. Chloe Angwin. Angela F. Brady. Marina Colombi. David J. P. Ferguson. Rebecca Pollitt. F. Michael Pope. Marco Ritelli. Sofie Symoens.
Reports & Statements
Clinical utility gene card for: osteogenesis imperfecta - Naturewww.nature.com › ... › clinical utility gene card
www.nature.com
Sep 26, · Fransiska Malfait & Sofie Symoens. Department of Paediatric Propedeutics and Bone Metabolic Diseases, Medical University of Lodz, Lodz, ...
A clinical scoring system for congenital contractural arachnodactyly...
www.nature.com
... Carina Wallgren-Pettersson MD, DM ,; Paul Coucke PhD ,; Anne De Paepe MD, PhD ,; Daniël De Wolf MD, PhD ,; Sofie Symoens PhD &; […] ...
nature.com search
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nature.com search. Login / Sign up. Showing 1–4 of 4 results. Search. advanced. Authors: ... Sofie Symoens & Gerard Pals. European Journal of Human Genetics
Miscellaneous
Articles by Sofie Symoens's Profile | Muck Rackmuckrack.com › sofie-symoens › articles
muckrack.com
Articles by Sofie Symoens on Muck Rack. Find Sofie Symoens's email address, contact information, LinkedIn, Twitter, other social media and more.
Dr Sofie SYMOENS - Orphanetwww.orpha.net › consor › cgi-bin › Directory_Professionals › MISSING C...
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Pr Sofie SYMOENS · Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent · Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent · C.
Sofie Symoens | Ghent Universityugent.academia.edu › SofieSymoens
ugent.academia.edu
Sofie Symoens, Ghent University, Center for Medical Genetics, Post-Doc. Studies Colon cancer, Sanctuaries in Ancient Rome and Italy, and Malacology ...
Sofie Symoens | Research Portalresearchportal.be › researcher › sofie-symoens
researchportal.be
Results of 80 · Sofie Symoens. Disciplines:Epigenetics, Clinical genetics and molecular diagnostics, Immunogenetics, Genetics, Immunogenetics ...
Sofie Symoens: मुफ़्त में डाउनलोड. ई-बुक पुस्तकालय. Z-Library में ऑन ...in.art1lib.com › ...
in.art1lib.com
Sofie Symoens: मुफ़्त में डाउनलोड. ई-बुक पुस्तकालय. Z-Library में ऑन लाइन पुस्तकों की दुकान | BookSC.
prof. Sofie Symoens - Ghent University Library - Universiteit Gentlib.ugent.be › bibliografie
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Sofie Symoens. Faculty of Medicine and Health Sciences > Department of Biomolecular Medicine · Ghent University Hospital. Work address ...
Symoens, Sofie: la bibliothèque numérique gratuite Z-Libraryfr.art1lib.org › ...
fr.art1lib.org
Fransiska Malfait, Sofie Symoens, Nathalie Goemans… Journal: Orphanet Journal of Rare Diseases. Année: Langue: english. Fichier: PDF, 777 KB.
Symoens, Sofie: 免费的Z-Library数字图书馆zh.art1lib.com › ...
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Sofie Symoens, Delfien Syx, Fransiska Malfait, Bert Callewaert, Julie De Backer, Olivier Vanakker, Paul Coucke, Anne De Paepe.
Aberrant binding of mutant HSP47 affects posttranslational PLOSjournals.plos.org › plosgenetics › article › comments › journal.pgen
journals.plos.org
Feb 1, · Sofie Symoens,. Roles Formal analysis, Writing – review & editing. Affiliation Center for Medical Genetics, Ghent University Hospital, ...
All screenings for gene B3GALT6 - Global Variome shared LOVDdatabases.lovd.nl › shared › screenings
databases.lovd.nl
DNA, PCR;SEQ, -, -, 2, Sofie Symoens DNA, SEQ, -, -, 2, Raymond Dalgleish DNA ?
Deficiency for the ER-stress transducer OASIS causes severe ...cyberleninka.org › article
cyberleninka.org
Similar topics of scientific paper in Biological sciences , author of scholarly article — Sofie Symoens, Fransiska Malfait, Sanne D'hondt, Bert Callewaert, ...
Delineation of Ehlers-Danlos syndrome phenotype due to the c ...read.qxmd.com › read
read.qxmd.com
Fransiska Malfait, Sofie Symoens, Julie De Backer, Trinh Hermanns-Lê, Natzi Sakalihasan, Charles M Lapière, Paul Coucke, Anne De Paepe Human Mutation 2007, ...
Figure S1 - A Novel Splice Variant in the N-propeptide of Figsharefigshare.com › articles › figure
figshare.com
May 16, · Sofie Symoens · Fransiska Malfait · Philip Vlummens · Trinh Hermanns-Lê · Delfien Syx · Anne De Paepe.
Henke Lab @ Emoryhenkelab.com
henkelab.com
Gistelinck, Charlotte, Ronald Y. Kwon, Fransiska Malfait, Sofie Symoens, Matthew P. Harris, Katrin Henke, Michael B. Hawkins, et al. (2018).
LARGEST REVIEW OF LOEYS-DIETZ SYNDROME TO DATEwww.hopkinsmedicine.org › Press_releases
www.hopkinsmedicine.org
Aug 23, · ... Ulrike Schwarze and Peter Byers of the University of Washington, Seattle; Bert Callewaert, Julie De Backer, Sofie Symoens, Paul Coucke, ...
More than meets the eye: expanding and Vrije Universiteit Brusselresearchportal.vub.be › publications › more-than-meets-the-eye-expanding...
researchportal.vub.be
Apr 6, · ... Maryse Bonduelle, Isabelle Migeotte, Osama Essawi, Serdar Ceylaner, Adila Al Kindy, Brad Tinkle, Sofie Symoens, Fransiska Malfait.
Mutations in FKBP10 cause recessive osteogenesis imperfecta and ...profiles.wustl.edu › publications › fingerprints
profiles.wustl.edu
Brian P. Kelley, Fransiska Malfait, Luisa Bonafe, Dustin Baldridge, Erica Homan, Sofie Symoens, Andy Willaert, Nursel Elcioglu, Lionel Van Maldergem, ...
Type-v | Sigma-Aldrichwww.sigmaaldrich.com › search › type-v
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Results of · Sofie Symoens et al. Human mutation, 33(10), ( ). Type V collagen mutations are associated with classic ...
Zebrafish type I collagen mutants faithfully recapitulate human type I ...www.biorxiv.org › content
www.biorxiv.org
Jan 11, · Charlotte Gistelinck, Ronald Y Kwon, Fransiska Malfait, Sofie Symoens, Matthew P. Harris, Katrin Henke, Shannon Fisher, Patrick Sips, ...
[PPT] Download Figures (PPT) - The Journal of Pediatricswww.jpeds.com › article › ppt
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... MD, PhD, Anne De Paepe, MD, PhD, Fransiska Malfait, MD, PhD, Sofie Symoens, PhD, Lambertus P. van den Heuvel, PhD, Elena N. Levtchenko, MD, PhD.
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