Results 161 to 170 of about 6,036 (217)

Autosomal Recessive Cutis Laxa 1C Mutations Disrupt the Structure and Interactions of Latent TGFβ Binding Protein-4. [PDF]

Front Genet, 2021
Alanazi YF, Lockhart-Cairns MP, Cain SA, Jowitt TA, Weiss AS, Baldock C.   +5 more
europepmc   +1 more source

Antwort auf: "Gibt es klare Präferenzen in der Therapie der Hyperthyreose zwischen chemischer Blockade der Hormonsynthese und der Behandlung mit Radiojod?" [PDF]

, 1980
Scriba, Peter Christian
core   +1 more source

Autosomal Dominant Cutis Laxa with Severe Lung Disease: Synthesis and Matrix Deposition of Mutant Tropoelastin [PDF]

, 2005
Zsolt Urbán, Jimin Gao, F. Michael Pope, Elaine C. Davis   +3 more
openalex   +1 more source

Coordinated orphan disease research : yes, we can! [PDF]

, 2013
Vanakker, Olivier
core   +3 more sources

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2 [PDF]

, 2010
Yeşerin Yıldırım, Aslıhan Tolun, Beyhan Tüysüz   +2 more
openalex   +1 more source

Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum [PDF]

, 2013
Uitto, Jouni
core   +1 more source

Cutis Laxa [PDF]

Proceedings of the Royal Society of Medicine, 1948
openaire   +1 more source

Cutis Laxa Type 1 B with Recurrent E57K Variation.

Indian J Dermatol
Singh A, Janani G, Abhinay A, Prasad R.
europepmc   +1 more source

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2. [PDF]

Mol Genet Genomics
Shangguan S, Zhang X, Ge Y, Han Y, Xiao L, Zhang Y, Xie H, Chen X, Wang X.   +8 more
europepmc   +1 more source

Infantile congenital cutis laxa with multiple hernias and ventricular septal defect

, 2005
Paras Kothari, Arun Gupta, Gowri Shankar, Bharati Kulkarni, Satish Dharap   +4 more
openalex   +1 more source