Results 141 to 150 of about 5,131 (208)

Molecular genetic and clinical review of Ehlers–Danlos Type VIIA: implications for management by the plastic surgeon in a multidisciplinary setting [PDF]

, 2009
Hamish Laing, Iain Whitaker
core   +1 more source

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

Cutis Laxa [PDF]

Proceedings of the Royal Society of Medicine, 1948
openaire   +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

Case Report: <i>de novo</i> in-frame deletion in <i>PLCG2</i> gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa. [PDF]

Front Immunol
Wu X, Zhang J, Shen M.
europepmc   +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

Cutis Laxa Type 1 B with Recurrent E57K Variation.

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

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

, 2013
Vanakker, Olivier
core   +3 more sources

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

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. [PDF]

Am J Hum Genet, 2020
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung KCP, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.   +40 more
europepmc   +1 more source