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Golder N Wilson

Showing results (21-30 of 32) with videos related to

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American Journal of Medical Genetics. Part A|May 14, 2011
Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is lessVijay Tonk, Jee Hong Kyhm, Caro E Gibson, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delayKrishna Yelavarthi, Huong Cabral, Golder N Wilson, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotypeVijay S Tonk, Golder N Wilson, Svetlana A Yatsenko, et al.
American Journal of Medical Genetics. Part A|May 7, 2016
KCNK9 imprinting syndrome-further delineation of a possible treatable disorderJohn M Graham, Neda Zadeh, Melissa Kelley, et al.
American Journal of Human Genetics|March 3, 2015
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic featuresEmma Tham, Anna Lindstrand, Avni Santani, et al.
Cold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.
Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|May 14, 2011
Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is lessVijay Tonk, Jee Hong Kyhm, Caro E Gibson, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delayKrishna Yelavarthi, Huong Cabral, Golder N Wilson, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotypeVijay S Tonk, Golder N Wilson, Svetlana A Yatsenko, et al.
American Journal of Medical Genetics. Part A|May 7, 2016
KCNK9 imprinting syndrome-further delineation of a possible treatable disorderJohn M Graham, Neda Zadeh, Melissa Kelley, et al.
American Journal of Human Genetics|March 3, 2015
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic featuresEmma Tham, Anna Lindstrand, Avni Santani, et al.
Cold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.
Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
Pageof 4