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The Journal of Clinical Investigation
|
April 3, 2012
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination
Dimitra Kiritsi, Yinghong He, Anna M G Pasmooij, et al.
The Journal of Clinical Investigation
|
November 17, 2004
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept
Pamela Poblete-Gutiérrez, Tonio Wiederholt, Arne König, et al.
European Journal of Pediatrics
|
August 27, 2009
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?
Ingo Helbig, Regina Fölster-Holst, Jochen Brasch, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2008
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation
Alejandro García-Vargas, Christian Hafner, Adriana G Pérez-Rodríguez, et al.
Acta Dermato-Venereologica
|
May 28, 2015
Large deletions in the NSDHL gene in two patients with CHILD syndrome
Zhou Yang, Britta Hartmann, Zhe Xu, et al.
The Journal of Investigative Dermatology
|
May 14, 2004
Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene
Peter M Steijlen, Maurice A M van Steensel, Bastiaan J H Jansen, et al.
The Journal of Investigative Dermatology
|
September 16, 2006
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1
Ken Arita, Witold K Jacyk, Vesarat Wessagowit, et al.
Experimental Dermatology
|
March 24, 2011
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome
Frank Oeffner, Francisco Martinez, Julie Schaffer, et al.
Acta Dermato-Venereologica
|
January 25, 2021
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin
Sabine Jägle, Hazem A Juratli, Geoffroy Hickman, et al.
Journal of the American Academy of Dermatology
|
February 5, 2005
Linear intraoral lesions in the sebaceous nevus syndrome
Patrick H Warnke, Paul A J Russo, Gustav W Schimmelpenning, et al.
Page
of 23
Search research articles
Search
Showing results (201-210 of 223) with videos related to
Sort By:
Page
of 23
The Journal of Clinical Investigation
|
April 3, 2012
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination
Dimitra Kiritsi, Yinghong He, Anna M G Pasmooij, et al.
The Journal of Clinical Investigation
|
November 17, 2004
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept
Pamela Poblete-Gutiérrez, Tonio Wiederholt, Arne König, et al.
European Journal of Pediatrics
|
August 27, 2009
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?
Ingo Helbig, Regina Fölster-Holst, Jochen Brasch, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2008
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation
Alejandro García-Vargas, Christian Hafner, Adriana G Pérez-Rodríguez, et al.
Acta Dermato-Venereologica
|
May 28, 2015
Large deletions in the NSDHL gene in two patients with CHILD syndrome
Zhou Yang, Britta Hartmann, Zhe Xu, et al.
The Journal of Investigative Dermatology
|
May 14, 2004
Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene
Peter M Steijlen, Maurice A M van Steensel, Bastiaan J H Jansen, et al.
The Journal of Investigative Dermatology
|
September 16, 2006
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1
Ken Arita, Witold K Jacyk, Vesarat Wessagowit, et al.
Experimental Dermatology
|
March 24, 2011
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome
Frank Oeffner, Francisco Martinez, Julie Schaffer, et al.
Acta Dermato-Venereologica
|
January 25, 2021
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin
Sabine Jägle, Hazem A Juratli, Geoffroy Hickman, et al.
Journal of the American Academy of Dermatology
|
February 5, 2005
Linear intraoral lesions in the sebaceous nevus syndrome
Patrick H Warnke, Paul A J Russo, Gustav W Schimmelpenning, et al.
Page
of 23