Results 151 to 160 of about 6,036 (217)

The first Japanese case of small airway disease in a patient with autosomal dominant cutis laxa harboring frameshift variant in exon 30 of the elastin gene [PDF]

open access: green
Masanori Kaji   +15 more
openalex   +1 more source

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report [PDF]

open access: diamond, 2019
Е. Г. Окунева   +7 more
openalex   +1 more source

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations. [PDF]

open access: yesGenes (Basel), 2021
Verlee M   +9 more
europepmc   +1 more source

Defective protein glycosylation in patients with cutis laxa syndrome [PDF]

open access: bronze, 2005
Éva Morava   +7 more
openalex   +1 more source

Cutis laxa‐like pseudoxanthoma elasticum with ossification [PDF]

open access: bronze, 2004
Sevgi Bahadır   +4 more
openalex   +1 more source

Coexistence of Neonatal Bartter Syndrome and Congenital Cutis Laxa, in which a new mutation in SLC12A1 was identified

open access: diamond, 2023
Fatih İşleyen   +5 more
openalex   +2 more sources

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