Canlyniadau Chwilio - Katrien Janssens
- Dangos 1 - 7 canlyniadau o 7
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1
Transforming Growth Factor-β1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein gan Katrien Janssens, Peter ten Dijke, Stuart H. Ralston, Carsten Bergmann, Wim Van Hul
Cyhoeddwyd 2003Artigo -
2
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment gan Katrien Janssens, Filip Vanhoenacker, M Bonduelle, Leon Verbruggen, Lionel Van Maldergem, Stuart H. Ralston, Núria Guañabens, Nicola Migone, Shlomo Wientroub, Maria Teresa Divizia, Carsten Bergmann, Craig R. Bennett, Suat Şimşek, S. Melançon, Tim Cundy, Wim Van Hul
Cyhoeddwyd 2005Revisão -
3
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies gan Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, Jessica M.E. van den Oever, Katrien Janssens, Bettina Blaumeiser, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch
Cyhoeddwyd 2016Artigo -
4
Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I gan Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Leonardo Almeida‐Souza, Kim van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter‐Weigel, Wolfgang N. Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman
Cyhoeddwyd 2010Artigo -
5
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis gan Jan Hellemans, Olena Preobrazhenska, Andy Willaert, Philippe Debeer, Peter Verdonk, Teresa Costa, Katrien Janssens, Björn Menten, Nadine Van Roy, Stefan Vermeulen, Ravi Savarirayan, Wim Van Hul, Filip Vanhoenacker, Danny Huylebroeck, Anne De Paepe, J.M. Naeyaert, Jo Vandesompele, Frank Speleman, Kristin Verschueren, Paul Coucke, Geert Mortier
Cyhoeddwyd 2004Artigo -
6
The coding polymorphism T263I in TGF-β1 is associated with otosclerosis in two independent populations gan Melissa Thys, Isabelle Schrauwen, Kathleen Vanderstraeten, Katrien Janssens, Nele Dieltjens, Kris Van Den Bogaert, Erik Fransén, Wenjie Chen, Megan Ealy, Mireille Claustres, Cor R.W.J. Cremers, Ingeborg Dhooge, Frank Declau, Jos Claes, Paul Van de Heyning, Robert Vincent, Thomas Somers, Erwin Offeciers, Richard J. Smith, Guy Van Camp
Cyhoeddwyd 2007Artigo -
7
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening gan Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gâtinois, Machteld Baetens, Bettina Blaumeiser, François Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, Marjan De Rademaeker, Julie Désir, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean‐Stéphane Gatot, Bernard Grisart, Katrien Janssens, Sandra Janssens, Damien Lederer, Axel Marichal, Björn Menten, Colombine Meunier, Léonor Palmeira, Bruno Pichon, Eva Sammels, Guillaume Smits, Yves Sznajer, Elise Vantroys, Koenraad Devriendt, Joris Vermeesch
Cyhoeddwyd 2021Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Genetics
Gene
Medicine
Fetus
Phenotype
Pregnancy
Prenatal diagnosis
Endocrinology
Environmental health
Internal medicine
Mutation
Population
Allele
Audiology
Biochemistry
Bone pain
Cell biology
Cell-free fetal DNA
Chromosome
Comparative genomic hybridization
Computer science
Copy-number variation
DNA sequencing
Diabetes mellitus
Disease
Exome sequencing
Family medicine
Genome
Genotype