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Emmelien Aten

Showing results (1-10 of 29) with videos related to

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Human Mutation|May 7, 2009
High-resolution melting analysis (HRMA): more than just sequence variant screeningRolf H A M Vossen, Emmelien Aten, Anja Roos, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?Emmelien Aten, Nicolette den Hollander, Claudia Ruivenkamp, et al.
Cancers|February 13, 2025
Genetic Alterations in Patients with <i>NF2</i>-Related Schwannomatosis and Sporadic Vestibular SchwannomasJules P J Douwes, Ronald van Eijk, Sybren L N Maas, et al.
BMC Microbiology|May 26, 2005
Genetic islands of Streptococcus agalactiae strains NEM316 and 2603VR and their presence in other Group B streptococcal strainsMark A Herbert, Catriona J E Beveridge, David McCormick, et al.
Journal of Medical Genetics|September 14, 2012
Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemiaMaartje Nielsen, Clementien L Vermont, Emmelien Aten, et al.
Familial Cancer|June 18, 2026
Determinants of the quality of life of patients with NF2-related schwannomatosis and validation of the Dutch NFTI-QOL questionnaireAnnemijn L Tops, Dorine Goemans, Emmelien Aten, et al.
Human Mutation|November 22, 2012
Exome sequencing identifies a branch point variant in Aarskog-Scott syndromeEmmelien Aten, Yu Sun, Rowida Almomani, et al.
European Journal of Medical Genetics|April 29, 2023
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22Sylvia A Koza, Anne C Tabet, Maria C Bonaglia, et al.
Journal of Cardiovascular Development and Disease|March 27, 2024
Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with <i>LMNA</i>-Gene VariantsHoi W Wu, Ivo P Van de Peppel, Julie W Rutten, et al.
Journal of Medical Genetics|April 12, 2020
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodologyAniek L van Wijngaarden, Yasmine L Hiemstra, Tamara T Koopmann, et al.
Pageof 3

Showing results (1-10 of 29) with videos related to

Sort By:
Pageof 3
Human Mutation|May 7, 2009
High-resolution melting analysis (HRMA): more than just sequence variant screeningRolf H A M Vossen, Emmelien Aten, Anja Roos, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?Emmelien Aten, Nicolette den Hollander, Claudia Ruivenkamp, et al.
Cancers|February 13, 2025
Genetic Alterations in Patients with <i>NF2</i>-Related Schwannomatosis and Sporadic Vestibular SchwannomasJules P J Douwes, Ronald van Eijk, Sybren L N Maas, et al.
BMC Microbiology|May 26, 2005
Genetic islands of Streptococcus agalactiae strains NEM316 and 2603VR and their presence in other Group B streptococcal strainsMark A Herbert, Catriona J E Beveridge, David McCormick, et al.
Journal of Medical Genetics|September 14, 2012
Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemiaMaartje Nielsen, Clementien L Vermont, Emmelien Aten, et al.
Familial Cancer|June 18, 2026
Determinants of the quality of life of patients with NF2-related schwannomatosis and validation of the Dutch NFTI-QOL questionnaireAnnemijn L Tops, Dorine Goemans, Emmelien Aten, et al.
Human Mutation|November 22, 2012
Exome sequencing identifies a branch point variant in Aarskog-Scott syndromeEmmelien Aten, Yu Sun, Rowida Almomani, et al.
European Journal of Medical Genetics|April 29, 2023
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22Sylvia A Koza, Anne C Tabet, Maria C Bonaglia, et al.
Journal of Cardiovascular Development and Disease|March 27, 2024
Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with <i>LMNA</i>-Gene VariantsHoi W Wu, Ivo P Van de Peppel, Julie W Rutten, et al.
Journal of Medical Genetics|April 12, 2020
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodologyAniek L van Wijngaarden, Yasmine L Hiemstra, Tamara T Koopmann, et al.
Pageof 3