Results 81 to 90 of about 1,418 (198)

A Silvery Hair Revolution: Case Report of Marie Antoinette Syndrome in a Child. [PDF]

Skin Appendage Disord
Golubov-Mandujano M, Yamazaki-Nakashimada MA, Ugalde-Trejo NX, Scheffler-Mendoza SC, Sáez-de-Ocariz M.   +4 more
europepmc   +1 more source

Almost misdiagnosed Menkes disease: A case report. [PDF]

Heliyon, 2022
Guo Y, Xia W, Peng X, Shao J.
europepmc   +1 more source

Copper - a scoping review for Nordic Nutrition Recommendations 2023. [PDF]

Food Nutr Res, 2023
Henriksen C, Arnesen EK.
europepmc   +1 more source

Delivering copper within plant cells [PDF]

, 2005
Edward Himelblau, Richard M Amasino
core   +2 more sources

Clinical and Genetic Functional Validation of a Novel <i>AP1S1</i> Mutation Causing MEDNIK Syndrome. [PDF]

Int J Genomics
Duan L, Shen R, Yin G, Tao R, Zhang Y, Yu W, Bao L, Ye W, Yin R, Tian X.   +9 more
europepmc   +1 more source

Ethics in pre-ART genetics: a missed X-linked Menkes disease case. [PDF]

J Assist Reprod Genet, 2023
Gerdes AA, Møller LB, Horn N.
europepmc   +1 more source

Introducing Wilson disease mutations into ZntA : Studies on the nucleotide and metal-binding sites of a bacterial zinc-translocating P-type ATPase [PDF]

, 2004
Okkeri, Juha
core  

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

Congenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations. [PDF]

Cureus
Qasim H, Abu Shugaer M, Khattab K, Leoni MLG, Varrassi G.   +4 more
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