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P J Coucke

Showing results (1-10 of 24) with videos related to

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Frontiers in Pharmacology|March 23, 2022
The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma ElasticumM Van Gils, A Willaert, P J Coucke, et al.
Genetic Counseling (Geneva, Switzerland)|February 26, 2013
Arterial tortuosity syndrome: case reportC Karakurt, G Koçak, O Elkiran, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|June 14, 2016
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic typeH W Ott, S Perkhofer, P J Coucke, et al.
Journal of Medical Genetics|July 6, 2004
Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotypeS Symoens, L Nuytinck, E Legius, et al.
Clinical Genetics|November 28, 2015
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndromeR H Ali, K Shah, A Nasir, et al.
The Journal of Investigative Dermatology|July 22, 2018
Generation and Validation of a Complete Knockout Model of abcc6a in ZebrafishM Van Gils, A Willaert, E Y G De Vilder, et al.
American Journal of Medical Genetics|August 5, 2000
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore regionP Van Hauwe, P J Coucke, R J Ensink, et al.
Molecular Syndromology|May 10, 2012
Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?T Nakane, T Tando, K Aoyagi, et al.
Advances in Oto-Rhino-Laryngology|June 27, 2000
DFNA 2, 5, 8, 12G Van Camp, P J Coucke, P Van Hauwe, et al.
Genomics|November 5, 1997
Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11K Kastury, W E Taylor, M Gutierrez, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
Frontiers in Pharmacology|March 23, 2022
The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma ElasticumM Van Gils, A Willaert, P J Coucke, et al.
Genetic Counseling (Geneva, Switzerland)|February 26, 2013
Arterial tortuosity syndrome: case reportC Karakurt, G Koçak, O Elkiran, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|June 14, 2016
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic typeH W Ott, S Perkhofer, P J Coucke, et al.
Journal of Medical Genetics|July 6, 2004
Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotypeS Symoens, L Nuytinck, E Legius, et al.
Clinical Genetics|November 28, 2015
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndromeR H Ali, K Shah, A Nasir, et al.
The Journal of Investigative Dermatology|July 22, 2018
Generation and Validation of a Complete Knockout Model of abcc6a in ZebrafishM Van Gils, A Willaert, E Y G De Vilder, et al.
American Journal of Medical Genetics|August 5, 2000
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore regionP Van Hauwe, P J Coucke, R J Ensink, et al.
Molecular Syndromology|May 10, 2012
Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?T Nakane, T Tando, K Aoyagi, et al.
Advances in Oto-Rhino-Laryngology|June 27, 2000
DFNA 2, 5, 8, 12G Van Camp, P J Coucke, P Van Hauwe, et al.
Genomics|November 5, 1997
Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11K Kastury, W E Taylor, M Gutierrez, et al.
Pageof 3