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American Journal of Medical Genetics. Part A
|
December 6, 2024
The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series
C Angwin, P Byers, E Dulfer, et al.
European Journal of Pediatrics
|
March 21, 1998
Acute bilateral renal vein thrombosis complicating Netherton syndrome
M Pohl, L B Zimmerhackl, I Hausser, et al.
Journal of Medical Genetics
|
June 15, 2007
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
J Dahlqvist, J Klar, I Hausser, et al.
Neurology
|
July 11, 2001
Pathogenesis of cervical artery dissections: association with connective tissue abnormalities
T Brandt, E Orberk, R Weber, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
January 10, 2013
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile
A M Perusquía-Ortiz, V Oji, M C Sauerland, et al.
Journal of Human Genetics
|
September 2, 2006
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association
M Melin, J Klar, T Jr Gedde-Dahl, et al.
The British Journal of Dermatology
|
December 1, 2015
Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient
N A Schlipf, H Traupe, Y Gilaberte, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
December 15, 2021
Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis
L Hake, K Süßmuth, K Komlosi, et al.
The British Journal of Dermatology
|
March 19, 2013
Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations
H Schumann, D Kiritsi, M Pigors, et al.
The British Journal of Dermatology
|
September 15, 2017
Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis
A Hotz, C Fagerberg, A Vahlquist, et al.
Page
of 7
Search research articles
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Showing results (51-60 of 65) with videos related to
Sort By:
Page
of 7
American Journal of Medical Genetics. Part A
|
December 6, 2024
The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series
C Angwin, P Byers, E Dulfer, et al.
European Journal of Pediatrics
|
March 21, 1998
Acute bilateral renal vein thrombosis complicating Netherton syndrome
M Pohl, L B Zimmerhackl, I Hausser, et al.
Journal of Medical Genetics
|
June 15, 2007
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
J Dahlqvist, J Klar, I Hausser, et al.
Neurology
|
July 11, 2001
Pathogenesis of cervical artery dissections: association with connective tissue abnormalities
T Brandt, E Orberk, R Weber, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
January 10, 2013
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile
A M Perusquía-Ortiz, V Oji, M C Sauerland, et al.
Journal of Human Genetics
|
September 2, 2006
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association
M Melin, J Klar, T Jr Gedde-Dahl, et al.
The British Journal of Dermatology
|
December 1, 2015
Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient
N A Schlipf, H Traupe, Y Gilaberte, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
December 15, 2021
Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis
L Hake, K Süßmuth, K Komlosi, et al.
The British Journal of Dermatology
|
March 19, 2013
Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations
H Schumann, D Kiritsi, M Pigors, et al.
The British Journal of Dermatology
|
September 15, 2017
Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis
A Hotz, C Fagerberg, A Vahlquist, et al.
Page
of 7