Results 171 to 180 of about 77,152 (265)

Molecular Genetics of Autosomal Recessive Congenital Ichthyosis [PDF]

, 2000
Virolainen, Elina
core  

Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1.

Journal of Investigative Dermatology
Katalin Komlosi, Cristina Glocker, Hao-Hsiang Hsu-Rehder, S. Alter, J. Kopp, A. Hotz, A. Zimmer, Ingrid Hausser-Siller, R. Sandhoff, V. Oji, Judith Fischer   +10 more
semanticscholar   +1 more source

Recurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis. [PDF]

Pediatr Dermatol, 2016
Damsky WE, Leventhal JS, Khalil D, Vesely MD, Craiglow BG, Milstone LM, Choate KA.   +6 more
europepmc   +1 more source

'Collodion baby': Presentation of a rare form of familial lamellar ichthyosis [PDF]

, 2016
Marina Stanojevic, Tanja Stojković, Dragana Savić, Biljana Vuletić, Andjelka Stojković, Raša Medović, Aleksandra Simović   +6 more
openalex   +1 more source

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis

, 2012
Laura Fachal, L. Rodríguez‐Pazos, Manuel Ginarte, A. Beiras, José Manuel Suárez Peñaranda, Jaime Toribio, Ángel Carracedo, Ana Vega   +7 more
openalex   +2 more sources

Harlequin Ichthyosis in a Preterm Neonate: A Case Report. [PDF]

Cureus
Ulmeanu AM, Damian DM, Nemes RM, Ionita CA.   +3 more
europepmc   +1 more source

Severe staphylococcal scalded skin syndrome. [PDF]

IDCases
Nakyeyune ML, Bongomin F.
europepmc   +1 more source

Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions [PDF]

, 2017
Barta, Endre, Fésüs, László, Király, Róbert   +2 more
core   +1 more source

Letters - Vitamin D deficiency rickets with Lamellar ichthyosis

, 2007
Kumar T. Sathish, X.J. Scott, Anna Simon, P. Raghupathy   +3 more
openalex   +1 more source

A rare case of lamellar ichthyosis

, 2011
И. А. Куклин, Yu M Bochkaryov, Yu V Keniksfest, M A ARTAMONOVA   +3 more
openalex   +2 more sources