Results 141 to 150 of about 3,923 (158)

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

, 2013
Uitto, Jouni
core   +1 more source

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

, 2013
Vanakker, Olivier
core   +3 more sources

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa [PDF]

, 2013
Thatjana Gardeitchik, Miski Mohamed, Björn Fischer‐Zirnsak, Martin Lammens, Dirk J. Lefeber, Baiba Lāce, Michael Parker, KiJoong Kim, Byung Chan Lim, Johannes Häberle, Livia Garavelli, Sujatha Jagadeesh, Ariana Kariminejad, Deanna Guerra, Miguel Leão, Riikka Keski‐Filppula, Han G. Brunner, Leo Nijtmans, Bert van den Heuvel, Ron A. Wevers, Uwe Kornak, Éva Morava   +21 more
openalex   +1 more source

Congenital cutis laxa with rectal and uterovaginal prolapse

, 2011
Sanjiv Choudhary, Shazia Bisati, Sankha Koley   +2 more
openalex   +1 more source

Variants of the ELN gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach [PDF]

, 2015
Πατεράκης, Κώστας
core   +1 more source

MGCS : an IgG-lambda monoclonal gammopathy associated with renal failure, lung disease and cutis laxa

, 2019
Pauline Storms, Géraldine Verstraete, Valentine Gillion, Éric Goffin, Selda Aydın, Liliane Marot, Anne–Catherine Pouleur, Jean‐Philippe Defour, Sarah Bailly, Marie‐Christiane Vekemans   +9 more
openalex   +2 more sources

The role of Pycr1 in the pathomechanism of autosomal recessive cutis laxa

, 2014
Saniye Sprenger
openalex   +2 more sources

Autosomal recessive cutis laxa type 1C with a compound heterozygous frame shift and nonsense LTBP4 variants [PDF]

Keiko Shoburu, Toshiki Nakamura, Makoto Ishitate, Hiroshi Yoshihashi, Toshiki Takenouchi, Tatsuo Kono, Hiroshi Hataya   +6 more
openalex   +1 more source

Data Sheet 1_Classical complement activation in light and heavy chain deposition disease with acquired cutis laxa and bronchiolitis obliterans: a case report of monoclonal gammopathy of clinical significance.pdf

Yuxiong Chen (11848886), Yue Fan (2227339), Shoudong Yang (22750076), Haoyuan Cui (22750079), Wei Ye (105005), Wenling Ye (7447109), Yubing Wen (5967308), Junling Zhuang (298328), Ping Wang (42415), Donglai Ma (582057), Kai Fang (2442778), Peng Xia (70027), Limeng Chen (789656), Hang Li (123039), Chao Li (145513)   +14 more
openalex   +1 more source

Cutis laxa with pulmonary artery stenosis

Indian Dermatology Online Journal, 2012
Krina B Patel, Ruchin Patel
doaj   +1 more source