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Jacek Majewski

Showing results (281-290 of 333) with videos related to

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Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.
The EMBO Journal|June 15, 2022
Nucleome programming is required for the foundation of totipotency in mammalian germline developmentMasahiro Nagano, Bo Hu, Shihori Yokobayashi, et al.
Acta Neuropathologica|June 5, 2012
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomasDong-Anh Khuong-Quang, Pawel Buczkowicz, Patricia Rakopoulos, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromePhilippe M Campeau, Jaeseung C Kim, James T Lu, et al.
Nature Genetics|October 20, 2009
Global patterns of cis variation in human cells revealed by high-density allelic expression analysisBing Ge, Dmitry K Pokholok, Tony Kwan, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
Cancer Research|August 1, 2022
Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial CancerOwen J Chen, Ester Castellsagué, Mohamed Moustafa-Kamal, et al.
American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
Human Mutation|November 20, 2012
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiencyMartin H Berryer, Fadi F Hamdan, Laura L Klitten, et al.
Journal of Inherited Metabolic Disease|June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Pageof 34

Showing results (281-290 of 333) with videos related to

Sort By:
Pageof 34
Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.
The EMBO Journal|June 15, 2022
Nucleome programming is required for the foundation of totipotency in mammalian germline developmentMasahiro Nagano, Bo Hu, Shihori Yokobayashi, et al.
Acta Neuropathologica|June 5, 2012
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomasDong-Anh Khuong-Quang, Pawel Buczkowicz, Patricia Rakopoulos, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromePhilippe M Campeau, Jaeseung C Kim, James T Lu, et al.
Nature Genetics|October 20, 2009
Global patterns of cis variation in human cells revealed by high-density allelic expression analysisBing Ge, Dmitry K Pokholok, Tony Kwan, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
Cancer Research|August 1, 2022
Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial CancerOwen J Chen, Ester Castellsagué, Mohamed Moustafa-Kamal, et al.
American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
Human Mutation|November 20, 2012
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiencyMartin H Berryer, Fadi F Hamdan, Laura L Klitten, et al.
Journal of Inherited Metabolic Disease|June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Pageof 34