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Roger E Stevenson

Showing results (41-50 of 158) with videos related to

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Clinical Genetics|October 30, 2023
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disabilityNikhil Sahajpal, Catherine Ziats, Alka Chaubey, et al.
American Journal of Medical Genetics. Part A|June 15, 2007
Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestationsMichael Marble, Kytja S Voeller, Melanie M May, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Partial ATRX gene duplication causes ATR-X syndromeDianne M Cohn, Roberta A Pagon, Louanne Hudgins, et al.
Clinical Dysmorphology|November 14, 2021
Angelman syndrome with a 15q11q13 deletion in a mother and daughterShannon Bell, Kameryn M Butler, Kathryn T Drazba, et al.
Clinical Genetics|November 10, 2019
X-linked intellectual disability: Phenotypic expression in carrier femalesCatherine A Ziats, Charles E Schwartz, Jozef Gecz, et al.
Genome Research|April 10, 2007
X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardationLilei Zhang, Chunfa Jie, Cassandra Obie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2002
Prevalence of aneuploidies in South Carolina in the 1990sJulianne S Collins, Rick L Olson, Barbara R DuPont, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2008
Fragile X syndrome detection in newborns-pilot studyRobert A Saul, Michael Friez, Karissa Eaves, et al.
European Journal of Human Genetics : EJHG|October 31, 2002
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndromeVirginie S Vervoort, Richard J H Smith, Jane O'Brien, et al.
Neurogenetics|February 24, 2007
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndromeShelli R Kesler, Richard J Simensen, Kytja Voeller, et al.
Pageof 16

Showing results (41-50 of 158) with videos related to

Sort By:
Pageof 16
Clinical Genetics|October 30, 2023
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disabilityNikhil Sahajpal, Catherine Ziats, Alka Chaubey, et al.
American Journal of Medical Genetics. Part A|June 15, 2007
Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestationsMichael Marble, Kytja S Voeller, Melanie M May, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Partial ATRX gene duplication causes ATR-X syndromeDianne M Cohn, Roberta A Pagon, Louanne Hudgins, et al.
Clinical Dysmorphology|November 14, 2021
Angelman syndrome with a 15q11q13 deletion in a mother and daughterShannon Bell, Kameryn M Butler, Kathryn T Drazba, et al.
Clinical Genetics|November 10, 2019
X-linked intellectual disability: Phenotypic expression in carrier femalesCatherine A Ziats, Charles E Schwartz, Jozef Gecz, et al.
Genome Research|April 10, 2007
X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardationLilei Zhang, Chunfa Jie, Cassandra Obie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2002
Prevalence of aneuploidies in South Carolina in the 1990sJulianne S Collins, Rick L Olson, Barbara R DuPont, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2008
Fragile X syndrome detection in newborns-pilot studyRobert A Saul, Michael Friez, Karissa Eaves, et al.
European Journal of Human Genetics : EJHG|October 31, 2002
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndromeVirginie S Vervoort, Richard J H Smith, Jane O'Brien, et al.
Neurogenetics|February 24, 2007
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndromeShelli R Kesler, Richard J Simensen, Kytja Voeller, et al.
Pageof 16