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Sandra Janssens

Showing results (51-60 of 79) with videos related to

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European Journal of Human Genetics : EJHG|April 7, 2023
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited allelesIlse Parijs, Nathalie Brison, Leen Vancoillie, et al.
Nature Communications|January 3, 2024
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial developmentAndrea Wilderman, Eva D'haene, Machteld Baetens, 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.
Human Genomics|March 1, 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritanceValerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, et al.
Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.
Acta Neuropathologica|March 31, 2023
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTDPedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, et al.
Orphanet Journal of Rare Diseases|October 17, 2015
47 patients with FLNA associated periventricular nodular heterotopiaMax Lange, Burkhard Kasper, Axel Bohring, et al.
Plos Genetics|December 14, 2018
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequenceEdith Bonnin, Pauline Cabochette, Alessandro Filosa, et al.
European Journal of Human Genetics : EJHG|January 13, 2026
ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)Said C Farschtschi, Candy Kumps, Tamara Hussong Milagre, et al.
Prenatal Diagnosis|May 22, 2020
Prenatally detected copy number variants in a national cohort: A postnatal follow-up studyJoke Muys, Yves Jacquemyn, Bettina Blaumeiser, et al.
Pageof 8

Showing results (51-60 of 79) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|April 7, 2023
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited allelesIlse Parijs, Nathalie Brison, Leen Vancoillie, et al.
Nature Communications|January 3, 2024
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial developmentAndrea Wilderman, Eva D'haene, Machteld Baetens, 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.
Human Genomics|March 1, 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritanceValerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, et al.
Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.
Acta Neuropathologica|March 31, 2023
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTDPedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, et al.
Orphanet Journal of Rare Diseases|October 17, 2015
47 patients with FLNA associated periventricular nodular heterotopiaMax Lange, Burkhard Kasper, Axel Bohring, et al.
Plos Genetics|December 14, 2018
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequenceEdith Bonnin, Pauline Cabochette, Alessandro Filosa, et al.
European Journal of Human Genetics : EJHG|January 13, 2026
ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)Said C Farschtschi, Candy Kumps, Tamara Hussong Milagre, et al.
Prenatal Diagnosis|May 22, 2020
Prenatally detected copy number variants in a national cohort: A postnatal follow-up studyJoke Muys, Yves Jacquemyn, Bettina Blaumeiser, et al.
Pageof 8