Results 211 to 220 of about 31,665 (304)

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]

Clin Case Rep
Ahmadi R, Bavarsad MJ, Feizollah Jani M, Azizimalamiri R.   +3 more
europepmc   +1 more source

Positional Cloning of Disease Causing Genes : A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease

, 2005
Joakim Klar
openalex   +1 more source

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

, 2012
Anaïs Grall, Éric Guaguère, Sandrine Planchais, Susanne Grond, E. Bourrat, Ingrid Haußer, Christophe Hitte, Matthieu Le Gallo, Céline Derbois, Gwang-Jin Kim, Laëtitia Lagoutte, F. Degorce‐Rubiales, Franz P.W. Radner, Anne Thomas, Sébastien Küry, Emmanuel Bensignor, Jacques Fontaine, Didier Pin, Robert Zimmermann, Rudolf Zechner, Mark Lathrop, Francis Galibert, Catherine André, Judith Fischer   +23 more
openalex   +2 more sources

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report. [PDF]

J Int Med Res
Lixiang W, Xianghong L, Lexia Y, Hongmin X, Liangliang L.   +4 more
europepmc   +1 more source

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by <i>AP1S1</i> and <i>AP1B1</i> mutations. [PDF]

Front Neurol
Wu R, Luo X, Wang XP.
europepmc   +1 more source

Molecular Genetics of Autosomal Recessive Congenital Ichthyosis [PDF]

, 2000
Virolainen, Elina
core  

Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review. [PDF]

Pharmaceuticals (Basel)
Oliveira BA, Torres A, Ricci-Júnior E, Almeida IF, Monteiro MSSB.   +4 more
europepmc   +1 more source

A Seven-year-old Girl with Exfoliative Erythroderma: A Quiz. [PDF]

Acta Derm Venereol
Trinh NB, Tran GH.
europepmc   +1 more source

Mirror Movements and Ichthyosis in a Child: A Rare Presentation of Kallmann Syndrome. [PDF]

Ann Indian Acad Neurol
Vachher H, Gandhi D, Pachapure S, Kamate M.   +3 more
europepmc   +1 more source

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad. [PDF]

Medicine (Baltimore)
Al-Bustanji R, AlRababah BK, Rumman MSA, Abukhaled Y, Al-Rabadi N, Younis HKB, Ghalyon G, Al-Tawalbeh S, Aloudat O, Alrashdan MMM, Yamin MT, Maaita M, Salah AKD, Satari A.   +13 more
europepmc   +1 more source