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Sarah M Nikkel

Showing results (31-40 of 36) with videos related to

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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 10, 2023
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related DisordersDominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, et al.
Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
Journal of Medical Genetics|March 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Human Molecular Genetics|January 2, 2014
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypesAnath C Lionel, Kristiina Tammimies, Andrea K Vaags, et al.
Pageof 4

Showing results (31-40 of 36) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 36 results.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 10, 2023
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related DisordersDominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, et al.
Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
Journal of Medical Genetics|March 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Human Molecular Genetics|January 2, 2014
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypesAnath C Lionel, Kristiina Tammimies, Andrea K Vaags, et al.
Pageof 4