Showing results (1811-1820 of 2,036) with videos related to

Sort By:
Pageof 204
Scientific Reports|October 7, 2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrumMaleeha Maria, Ideke J C Lamers, Miriam Schmidts, et al.
The Journal of Clinical Endocrinology and Metabolism|March 16, 2007
Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronineJurgen Jansen, Edith C H Friesema, Monique H A Kester, et al.
American Journal of Human Genetics|July 15, 2014
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophySusanne Roosing, Ideke J C Lamers, Erik de Vrieze, et al.
Human Mutation|August 20, 2015
Diagnostic interpretation of array data using public databases and internet sourcesNicole de Leeuw, Trijnie Dijkhuizen, Jayne Y Hehir-Kwa, et al.
European Journal of Human Genetics : EJHG|August 30, 2021
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobilityAafke Engwerda, Erika K S M Leenders, Barbara Frentz, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnosticsNicolien M Hanemaaijer, Birgit Sikkema-Raddatz, Gerben van der Vries, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 8, 2014
Human TLR10 is an anti-inflammatory pattern-recognition receptorMarije Oosting, Shih-Chin Cheng, Judith M Bolscher, et al.
Cilia|June 3, 2015
Non-invasive sources of cells with primary cilia from pediatric and adult patientsHenry Ajzenberg, Gisela G Slaats, Marijn F Stokman, et al.
The Spine Journal : Official Journal of the North American Spine Society|May 9, 2025
Hounsfield unit measurements to predict odontoid fracture union in elderly patients: post-hoc subgroup analysis from an international prospective comparative studyJeroen Gj Huybregts, Wilco Ch Jacobs, Luc Wf van Haaster, et al.
Circulation. Heart Failure|December 19, 2023
Increased Chamber Resting Tone Is a Key Determinant of Left Ventricular Diastolic DysfunctionMaría Tamargo, Pablo Martínez-Legazpi, M Ángeles Espinosa, et al.
Pageof 204