Results 101 to 110 of about 4,504 (171)

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome [PDF]

, 2020
openaire   +1 more source

Effectiveness of expanded prenatal screening among consanguineous couples of Afghan descent. [PDF]

AJOG Glob Rep
Osman N, Rhee L, Boe N, Hedriana H, Singh K.   +4 more
europepmc   +1 more source

Autosomal Recessive Woolly Hair Caused by <i>LIPH</i> Mutations: A Case Series of Six Chinese Patients. [PDF]

Clin Cosmet Investig Dermatol
Cui C, Chen X, Zhang YZ, Ni JY, Ma JY, Wei AH.   +5 more
europepmc   +1 more source

Prenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation. [PDF]

Genes (Basel)
Marcella S, Sirica R, Petrillo N, Ianniello M, Mori A, Castiello R, Capone SF, Evangelista E, Suero T, Ruggiero R, Columbro A, Barone A, Malandrenis I, Fico A, Savarese G.   +14 more
europepmc   +1 more source

Marie Unna hereditary hypotrichosis [PDF]

, 2020
openaire   +1 more source

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia. [PDF]

Orphanet J Rare Dis
Kovalskaia VA, Cherevatova TB, Zinina EV, Shagina OA, Vorontsova EO, Matyushchenko GN, Demina NA, Petukhova MP, Markova TV, Guseva DM, Galkina VA, Anisimova IV, Stepanova AA, Chuhrova AL, Sharova MV, Bostanova FM, Voskanyan AE, Polyakov AV, Ryzhkova OP.   +18 more
europepmc   +1 more source

Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family. [PDF]

J Cosmet Dermatol
Yang L, Li S, Yao M, Jiang S, Cheng F, Jia X.   +5 more
europepmc   +1 more source

Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies. [PDF]

Front Med (Lausanne)
Ye Y, Wang X, He Y, Ning H, Zhang Z, Tao F, Zou Z, Fang Q, Chen Z, Tian X, Hao X.   +10 more
europepmc   +1 more source

An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia. [PDF]

Cureus
Nardone AJ, Kirwin DS, Lyford WH.
europepmc   +1 more source

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea. [PDF]

Orphanet J Rare Dis
Kim MJ, Lee JS, Chae SW, Cho SI, Moon J, Ko JM, Chae JH, Seong MW.   +7 more
europepmc   +1 more source