Results 51 to 60 of about 1,071 (127)

Acquired Trichorrhexis Nodosa Confined to the Beard: A Rare Entity.

Indian J Dermatol
Garg T, Meena AK, Mendiratta V.
europepmc   +1 more source

Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: A Hair Curling Case Report. [PDF]

Case Rep Dermatol
Langley C, Plakotaris E, Rogers NE.
europepmc   +1 more source

Feeding-Triggered Seizures in a Newborn with <i>AP1S1</i>-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease. [PDF]

J Clin Med
Cavalli A, Peluso F, Frattini D, Cesaroni CA, Bondi C, Malmusi G, Peruzzi A, Rizzi S, Pantani A, Trimarchi G, Melli N, Novelli A, Zuntini R, Gargano G, Garavelli L, Fusco C.   +15 more
europepmc   +1 more source

Incidental pancytopenia in the setting of urolithiasis: severe copper deficiency without classic risk factors. [PDF]

BMJ Case Rep
Leung C, Ayalew FB, Heimlich L, Kurth BJ.   +3 more
europepmc   +1 more source

Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing. [PDF]

Biomolecules
Bhakta S, Kodama H, Mimaki M, Tsukahara T.   +3 more
europepmc   +1 more source

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant. [PDF]

Sci Rep
Matsumoto A, Kano S, Kobayashi N, Matsuki M, Furukawa R, Yamagishi H, Yoshinari H, Nakata W, Wakabayashi H, Tsuda H, Watanabe K, Takahashi H, Yamagata T, Matsumura T, Osaka H, Mori H, Iwamoto S.   +16 more
europepmc   +1 more source

Paediatric cerebrovascular syndromes: imaging clues to a diagnosis. [PDF]

Br J Radiol
Hasan Z, Dmytriw AA, Blaser S, Muthusami P.   +3 more
europepmc   +1 more source

Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis. [PDF]

Front Med (Lausanne)
Xie Y, Luo S, Yang Y, Zou X, Lv S, Du M, Xu Y, Song X, Qi C, Li N, Yang D.   +10 more
europepmc   +1 more source

Anemia Due to Unexpected Zinc-Induced Copper Deficiency. [PDF]

Hematol Rep
Chun N, Aman S, Xu D, Wang J, Zuppan C, Kheradpour A.   +5 more
europepmc   +1 more source

Novel <i>ATP7A</i> Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review. [PDF]

Genes (Basel)
Writzl K, Škrjanec Pušenjak M, Jus M, Maver A, Pečarič Meglič N, Peterlin B, Leonardis L.   +6 more
europepmc   +1 more source