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C Rooryck

Showing results (1-10 of 13) with videos related to

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Annales D'Endocrinologie|November 21, 2008
[Bardet-Biedl syndrome]C Rooryck, D Lacombe
Clinical and Experimental Rheumatology|June 21, 2008
Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated with infliximab therapyC Rooryck, T Barnetche, C Richez, et al.
Clinical Genetics|June 16, 2017
Further delineation of the phenotype caused by biallelic variants in the WDR4 geneA Trimouille, E Lasseaux, P Barat, et al.
Neuropediatrics|July 4, 2007
Bardet-biedl syndrome and brain abnormalitiesC Rooryck, S Pelras, J-F Chateil, et al.
Clinical Genetics|March 18, 2017
Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastomaA Trimouille, E Barouk-Simonet, S Charron, et al.
American Journal of Medical Genetics. Part A|June 27, 2015
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parentsN Houcinat, B Llanas, S Moutton, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 15, 2011
[Polymorphic expression of epilepsy and cognitive impairment in ring chromosome 20 syndrome]F Villéga, H Ngayap, C Espil-Taris, et al.
European Journal of Medical Genetics|August 22, 2012
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African femaleM J Alao, A Lalèyè, F Lalya, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|September 8, 2018
Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical settingL Allach El Khattabi, S Brun, P Gueguen, et al.
Nature Communications|August 14, 2021
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cellsJ Boutin, J Rosier, D Cappellen, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Annales D'Endocrinologie|November 21, 2008
[Bardet-Biedl syndrome]C Rooryck, D Lacombe
Clinical and Experimental Rheumatology|June 21, 2008
Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated with infliximab therapyC Rooryck, T Barnetche, C Richez, et al.
Clinical Genetics|June 16, 2017
Further delineation of the phenotype caused by biallelic variants in the WDR4 geneA Trimouille, E Lasseaux, P Barat, et al.
Neuropediatrics|July 4, 2007
Bardet-biedl syndrome and brain abnormalitiesC Rooryck, S Pelras, J-F Chateil, et al.
Clinical Genetics|March 18, 2017
Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastomaA Trimouille, E Barouk-Simonet, S Charron, et al.
American Journal of Medical Genetics. Part A|June 27, 2015
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parentsN Houcinat, B Llanas, S Moutton, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 15, 2011
[Polymorphic expression of epilepsy and cognitive impairment in ring chromosome 20 syndrome]F Villéga, H Ngayap, C Espil-Taris, et al.
European Journal of Medical Genetics|August 22, 2012
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African femaleM J Alao, A Lalèyè, F Lalya, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|September 8, 2018
Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical settingL Allach El Khattabi, S Brun, P Gueguen, et al.
Nature Communications|August 14, 2021
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cellsJ Boutin, J Rosier, D Cappellen, et al.
Pageof 2