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Cold Spring Harbor molecular case studies

Showing results (61-70 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|November 18, 2021
Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21Nicole Baca, Pedro A Sanchez-Lara, Rhona Schreck, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystoniaEmilie Neerup Nielsen, Birna Ásbjörnsdóttir, Lisbeth Birk Møller, et al.
Cold Spring Harbor Molecular Case Studies|October 31, 2022
A novel biallelic loss-of-function variant in <i>DAND5</i> causes heterotaxy syndromeMythily Ganapathi, Christie M Buchovecky, Fernando Cristo, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2021
Novel variants identified in <i>CKAP2L</i> in two siblings with Filippi syndromeRyan J Patrick, Jill Weimer, Laura Davis-Keppen, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Autosomal recessive <i>SLC30A9</i> variants in a proband with a cerebrorenal syndrome and no parental consanguinityRobert Kleyner, Mohammad Arif, Elaine Marchi, et al.
Cold Spring Harbor Molecular Case Studies|September 29, 2018
A unique de novo gain-of-function variant in <i>CAMK4</i> associated with intellectual disability and hyperkinetic movement disorderMichael Zech, Daniel D Lam, Sandrina Weber, et al.
Cold Spring Harbor Molecular Case Studies|June 7, 2019
Clinical and genetic characterization of individuals with predicted deleterious <i>PHIP</i> variantsKirsten E Craddock, Volkan Okur, Ashley Wilson, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2021
Maternal mosaicism for a missense variant in the <i>SMS</i> gene that causes Snyder-Robinson syndromeMohammad Marhabaie, Scott E Hickey, Katherine Miller, et al.
Cold Spring Harbor Molecular Case Studies|October 7, 2021
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum featuresSiren Berland, Cecilie F Rustad, Mariann H L Bentsen, et al.
Cold Spring Harbor Molecular Case Studies|October 26, 2021
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implicationsCourtney B Cook, Linlea Armstrong, Cornelius F Boerkoel, et al.
Pageof 48

Showing results (61-70 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|November 18, 2021
Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21Nicole Baca, Pedro A Sanchez-Lara, Rhona Schreck, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystoniaEmilie Neerup Nielsen, Birna Ásbjörnsdóttir, Lisbeth Birk Møller, et al.
Cold Spring Harbor Molecular Case Studies|October 31, 2022
A novel biallelic loss-of-function variant in <i>DAND5</i> causes heterotaxy syndromeMythily Ganapathi, Christie M Buchovecky, Fernando Cristo, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2021
Novel variants identified in <i>CKAP2L</i> in two siblings with Filippi syndromeRyan J Patrick, Jill Weimer, Laura Davis-Keppen, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Autosomal recessive <i>SLC30A9</i> variants in a proband with a cerebrorenal syndrome and no parental consanguinityRobert Kleyner, Mohammad Arif, Elaine Marchi, et al.
Cold Spring Harbor Molecular Case Studies|September 29, 2018
A unique de novo gain-of-function variant in <i>CAMK4</i> associated with intellectual disability and hyperkinetic movement disorderMichael Zech, Daniel D Lam, Sandrina Weber, et al.
Cold Spring Harbor Molecular Case Studies|June 7, 2019
Clinical and genetic characterization of individuals with predicted deleterious <i>PHIP</i> variantsKirsten E Craddock, Volkan Okur, Ashley Wilson, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2021
Maternal mosaicism for a missense variant in the <i>SMS</i> gene that causes Snyder-Robinson syndromeMohammad Marhabaie, Scott E Hickey, Katherine Miller, et al.
Cold Spring Harbor Molecular Case Studies|October 7, 2021
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum featuresSiren Berland, Cecilie F Rustad, Mariann H L Bentsen, et al.
Cold Spring Harbor Molecular Case Studies|October 26, 2021
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implicationsCourtney B Cook, Linlea Armstrong, Cornelius F Boerkoel, et al.
Pageof 48