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Molecular Pain|May 16, 2024
Reduced capsaicin-induced mechanical allodynia and neuronal responses in the dorsal root ganglion in the presence of protein tyrosine phosphatase non-receptor type 6 overexpressionRobin Vroman, Shingo Ishihara, Spencer Fullam, et al.
Journal of Occupational Rehabilitation|October 9, 2017
Updating the Evidence on Functional Capacity Evaluation Methods: A Systematic ReviewStijn De Baets, Patrick Calders, Noortje Schalley, et al.
Oncology Reports|February 11, 2017
Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assayAnnelot Baert, Julie Depuydt, Tom Van Maerken, et al.
Molecular Genetics and Metabolism|September 22, 2014
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencingFrederic R Acke, Fransiska Malfait, Olivier M Vanakker, et al.
Orphanet Journal of Rare Diseases|September 5, 2012
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesisMahesh Kappanayil, Sheela Nampoothiri, Rajesh Kannan, et al.
The Biochemical Journal|October 29, 2010
Identification of binding partners interacting with the α1-N-propeptide of type V collagenSofie Symoens, Marjolijn Renard, Christelle Bonod-Bidaud, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disordersLisanne E de Koning, Jessica Warnink-Kavelaars, Marion A van Rossum, et al.
The Journal of Investigative Dermatology|April 28, 2005
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patientLinda C Walker, Mayra A Overstreet, Adnan Siddiqui, et al.
Molecular Genetics & Genomic Medicine|March 5, 2020
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiencyCharlotte K Lautrup, Keng W Teik, Ai Unzaki, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|August 15, 2014
Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patientsRie Harboe Nielsen, Christian Couppé, Jacob Kildevang Jensen, et al.
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