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Thomy de Ravel

Showing results (41-50 of 72) with videos related to

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Plos One|January 12, 2017
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesCaroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, et al.
Journal of Medical Genetics|January 15, 2020
The clinical relevance of intragenic <i>NRXN1</i> deletionsNele Cosemans, Laura Vandenhove, Annick Vogels, et al.
Human Mutation|May 12, 2007
Subtelomeric imbalances in phenotypically normal individualsIrina Balikova, Björn Menten, Thomy de Ravel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 2, 2016
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidiesNathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, et al.
Genes, Chromosomes & Cancer|October 12, 2011
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumorsEline Beert, Hilde Brems, Bruno Daniëls, et al.
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy managementBaran Bayindir, Luc Dehaspe, Nathalie Brison, et al.
The Journal of Cell Biology|March 13, 2013
Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levelsNathalie Jurisch-Yaksi, Applonia J Rose, Huiqi Lu, et al.
The International Journal of Cardiovascular Imaging|December 5, 2022
Prognostic value of left ventricular global constructive work in patients with cardiac amyloidosisJolien Geers, Maria-Luiza Luchian, Andreea Motoc, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2013
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factorsPaul Daniel Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, et al.
Pageof 8

Showing results (41-50 of 72) with videos related to

Sort By:
Pageof 8
Plos One|January 12, 2017
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesCaroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, et al.
Journal of Medical Genetics|January 15, 2020
The clinical relevance of intragenic <i>NRXN1</i> deletionsNele Cosemans, Laura Vandenhove, Annick Vogels, et al.
Human Mutation|May 12, 2007
Subtelomeric imbalances in phenotypically normal individualsIrina Balikova, Björn Menten, Thomy de Ravel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 2, 2016
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidiesNathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, et al.
Genes, Chromosomes & Cancer|October 12, 2011
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumorsEline Beert, Hilde Brems, Bruno Daniëls, et al.
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy managementBaran Bayindir, Luc Dehaspe, Nathalie Brison, et al.
The Journal of Cell Biology|March 13, 2013
Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levelsNathalie Jurisch-Yaksi, Applonia J Rose, Huiqi Lu, et al.
The International Journal of Cardiovascular Imaging|December 5, 2022
Prognostic value of left ventricular global constructive work in patients with cardiac amyloidosisJolien Geers, Maria-Luiza Luchian, Andreea Motoc, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2013
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factorsPaul Daniel Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, et al.
Pageof 8