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Sandra Janssens

Showing results (41-50 of 79) with videos related to

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Scientific Reports|December 4, 2015
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscapeHannah Verdin, Ana Fernández-Miñán, Sara Benito-Sanz, et al.
Neuromuscular Disorders : NMD|April 21, 2015
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMarco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, et al.
Journal of Medical Genetics|July 2, 2013
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylyNicolas Simonis, Isabelle Migeotte, Nelle Lambert, et al.
Journal of the American Society of Nephrology : JASN|April 14, 2006
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adultsDavid S Geller, Junhui Zhang, Maria-Christina Zennaro, et al.
Gene|December 21, 2016
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disabilityIlse M van der Werf, Anke Van Dijck, Edwin Reyniers, et al.
Clinical Genetics|January 19, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian PopulationAude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, et al.
European Journal of Human Genetics : EJHG|March 17, 2016
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.
Investigative Ophthalmology & Visual Science|February 14, 2015
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile NystagmusBasamat AlMoallem, Miriam Bauwens, Sophie Walraedt, et al.
European Journal of Human Genetics : EJHG|October 13, 2017
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
Pageof 8

Showing results (41-50 of 79) with videos related to

Sort By:
Pageof 8
Scientific Reports|December 4, 2015
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscapeHannah Verdin, Ana Fernández-Miñán, Sara Benito-Sanz, et al.
Neuromuscular Disorders : NMD|April 21, 2015
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMarco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, et al.
Journal of Medical Genetics|July 2, 2013
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylyNicolas Simonis, Isabelle Migeotte, Nelle Lambert, et al.
Journal of the American Society of Nephrology : JASN|April 14, 2006
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adultsDavid S Geller, Junhui Zhang, Maria-Christina Zennaro, et al.
Gene|December 21, 2016
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disabilityIlse M van der Werf, Anke Van Dijck, Edwin Reyniers, et al.
Clinical Genetics|January 19, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian PopulationAude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, et al.
European Journal of Human Genetics : EJHG|March 17, 2016
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.
Investigative Ophthalmology & Visual Science|February 14, 2015
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile NystagmusBasamat AlMoallem, Miriam Bauwens, Sophie Walraedt, et al.
European Journal of Human Genetics : EJHG|October 13, 2017
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
Pageof 8