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Thomy de Ravel

Showing results (31-40 of 72) with videos related to

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American Journal of Medical Genetics. Part A|January 31, 2014
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletionMichele P Migliavacca, Nara L M Sobreira, Graziela P M Antonialli, et al.
Human Mutation|May 9, 2019
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis siteCarlijn Brekelmans, Silke Hollants, Caroline De Groote, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12Christophe Goubau, Koen Devriendt, Nathalie Van der Aa, et al.
Human Mutation|October 28, 2014
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patientsMiriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, et al.
Prenatal Diagnosis|February 2, 2018
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testingNathalie Brison, Maria Neofytou, Luc Dehaspe, et al.
Genes, Chromosomes & Cancer|December 3, 2009
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutationsEllen Denayer, Koen Devriendt, Thomy de Ravel, et al.
European Journal of Medical Genetics|February 15, 2020
Next-generation sequencing in prenatal setting: Some examples of unexpected variant associationBerardo Rinaldi, Valerie Race, Anniek Corveleyn, et al.
Human Reproduction (Oxford, England)|November 2, 2018
Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-MAspasia Destouni, Eftychia Dimitriadou, Heleen Masset, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophyFrauke Coppieters, Kristof Van Schil, Miriam Bauwens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2019
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screeningNathalie Brison, Jazz Storms, Darine Villela, et al.
Pageof 8

Showing results (31-40 of 72) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|January 31, 2014
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletionMichele P Migliavacca, Nara L M Sobreira, Graziela P M Antonialli, et al.
Human Mutation|May 9, 2019
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis siteCarlijn Brekelmans, Silke Hollants, Caroline De Groote, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12Christophe Goubau, Koen Devriendt, Nathalie Van der Aa, et al.
Human Mutation|October 28, 2014
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patientsMiriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, et al.
Prenatal Diagnosis|February 2, 2018
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testingNathalie Brison, Maria Neofytou, Luc Dehaspe, et al.
Genes, Chromosomes & Cancer|December 3, 2009
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutationsEllen Denayer, Koen Devriendt, Thomy de Ravel, et al.
European Journal of Medical Genetics|February 15, 2020
Next-generation sequencing in prenatal setting: Some examples of unexpected variant associationBerardo Rinaldi, Valerie Race, Anniek Corveleyn, et al.
Human Reproduction (Oxford, England)|November 2, 2018
Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-MAspasia Destouni, Eftychia Dimitriadou, Heleen Masset, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophyFrauke Coppieters, Kristof Van Schil, Miriam Bauwens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2019
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screeningNathalie Brison, Jazz Storms, Darine Villela, et al.
Pageof 8