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A Vahlquist

Showing results (141-150 of 146) with videos related to

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The British Journal of Dermatology|January 18, 2017
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier functionA D Zimmer, G-J Kim, A Hotz, et al.
The British Journal of Dermatology|November 8, 2007
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosisA C Thomas, C Sinclair, N Mahmud, et al.
Human Molecular Genetics|August 11, 1999
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation classV L Ruiz-Perez, S A Carter, E Healy, et al.
Journal of Medical Genetics|February 4, 2005
Mutational spectrum of NSDHL in CHILD syndromeD Bornholdt, A König, R Happle, et al.
The British Journal of Dermatology|June 14, 2018
Management of congenital ichthyoses: European guidelines of care, part twoJ Mazereeuw-Hautier, A Hernández-Martín, E A O'Toole, et al.
The British Journal of Dermatology|September 15, 2018
Management of congenital ichthyoses: European guidelines of care, part oneJ Mazereeuw-Hautier, A Vahlquist, H Traupe, et al.
Pageof 15

Showing results (141-150 of 146) with videos related to

Sort By:
Pageof 15
You have reached the last page of results.This site can display upto 146 results.
The British Journal of Dermatology|January 18, 2017
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier functionA D Zimmer, G-J Kim, A Hotz, et al.
The British Journal of Dermatology|November 8, 2007
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosisA C Thomas, C Sinclair, N Mahmud, et al.
Human Molecular Genetics|August 11, 1999
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation classV L Ruiz-Perez, S A Carter, E Healy, et al.
Journal of Medical Genetics|February 4, 2005
Mutational spectrum of NSDHL in CHILD syndromeD Bornholdt, A König, R Happle, et al.
The British Journal of Dermatology|June 14, 2018
Management of congenital ichthyoses: European guidelines of care, part twoJ Mazereeuw-Hautier, A Hernández-Martín, E A O'Toole, et al.
The British Journal of Dermatology|September 15, 2018
Management of congenital ichthyoses: European guidelines of care, part oneJ Mazereeuw-Hautier, A Vahlquist, H Traupe, et al.
Pageof 15