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M Splitt

Showing results (11-20 of 20) with videos related to

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American Journal of Human Genetics|January 23, 1999
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypesM Tassabehji, K Metcalfe, A Karmiloff-Smith, et al.
European Journal of Human Genetics : EJHG|March 8, 2018
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancyK J Low, K Stals, R Caswell, et al.
Nature Genetics|November 4, 2000
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defectsR N Bamford, E Roessler, R D Burdine, et al.
American Journal of Human Genetics|April 1, 2008
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormalityJ A Fantes, E Boland, J Ramsay, et al.
Journal of Medical Genetics|March 10, 2001
Clinical studies on submicroscopic subtelomeric rearrangements: a checklistB B de Vries, S M White, S J Knight, et al.
European Journal of Human Genetics : EJHG|June 16, 2019
De novo variants in CNOT3 cause a variable neurodevelopmental disorderR Martin, M Splitt, D Genevieve, et al.
Human Genetics|April 10, 2013
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndromeJ C Czeschik, C Voigt, Y Alanay, et al.
Journal of Medical Genetics|April 5, 2005
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndromeK Tatton-Brown, J Douglas, K Coleman, et al.
American Journal of Human Genetics|June 18, 2005
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeD Beysen, J Raes, B P Leroy, et al.
Nature Communications|January 10, 2015
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindnessS Kmoch, J Majewski, V Ramamurthy, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
American Journal of Human Genetics|January 23, 1999
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypesM Tassabehji, K Metcalfe, A Karmiloff-Smith, et al.
European Journal of Human Genetics : EJHG|March 8, 2018
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancyK J Low, K Stals, R Caswell, et al.
Nature Genetics|November 4, 2000
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defectsR N Bamford, E Roessler, R D Burdine, et al.
American Journal of Human Genetics|April 1, 2008
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormalityJ A Fantes, E Boland, J Ramsay, et al.
Journal of Medical Genetics|March 10, 2001
Clinical studies on submicroscopic subtelomeric rearrangements: a checklistB B de Vries, S M White, S J Knight, et al.
European Journal of Human Genetics : EJHG|June 16, 2019
De novo variants in CNOT3 cause a variable neurodevelopmental disorderR Martin, M Splitt, D Genevieve, et al.
Human Genetics|April 10, 2013
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndromeJ C Czeschik, C Voigt, Y Alanay, et al.
Journal of Medical Genetics|April 5, 2005
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndromeK Tatton-Brown, J Douglas, K Coleman, et al.
American Journal of Human Genetics|June 18, 2005
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeD Beysen, J Raes, B P Leroy, et al.
Nature Communications|January 10, 2015
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindnessS Kmoch, J Majewski, V Ramamurthy, et al.
Pageof 2