Results 91 to 100 of about 598 (144)

Exome sequencing uncovers promising candidate genes for foetal structural malformations. [PDF]

Indian J Med Res
Sudhakar DV, Joseph S, Bansal V, Gangurde A, Nitin Minde N, Gawde H, Pande SS.   +6 more
europepmc   +1 more source

Congenital contractural arachnodactyly

, 2016
Blair, E, Igbokwe, R, Suri, M, Stolte-Dijkstra, I, Dali, CI, Yadav, D, De Paepe, Anne, Petit, F, Topa, A, Symoens, Sofie, Bayat, A, Keymolen, K, Meerschaut, Ilse, Willems, P, De Backer, Julie, Oosterwijk, JC, Lynch, S, Berland, S, Callewaert, Bert, Collins, A, Thomas, E, Male, A, Cheryl, L, Laitinen, V, Mckenzie, F, Coucke, Paul, De Coninck, Shana, Garcia Minaur, S, Steyaert, Wouter, Jones, G, Destree, A   +30 more
core  

The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways. [PDF]

Med Sci (Basel)
Dreher L, Abdul Nabi H, Vandolah H, Brennan S, Bcharah G, Bcharah H, Osundiji MA, Baudhuin LM, Shamoun FE.   +8 more
europepmc   +1 more source

Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease. [PDF]

Interdiscip Cardiovasc Thorac Surg
Lee H, Kim Y, Kim MS, Lee KA, Song SW.
europepmc   +1 more source

Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report. [PDF]

Children (Basel)
Illés A, Pikó H, Bartek V, Szepesi O, Rudas G, Benkő Z, Harmath Á, Kósa JP, Beke A.   +8 more
europepmc   +1 more source

Congenital Contractural Arachnodactyly (Beals Syndrome)

, 2008
HWU, WUH-LIANG, 胡務亮
core  

Pilot study exploring artificial intelligence for facial-image-based diagnosis of Marfan syndrome. [PDF]

Heliyon
Saksenberg D, Mukherjee S, Zafar MA, Ziganshin B, Elefteriades JA.   +4 more
europepmc   +1 more source

Trigger Thumb, Trigger Finger and Clasped Thumb. [PDF]

Children (Basel)
Carvalho M, Barreto MI, Alves C, Soldado F.   +3 more
europepmc   +1 more source

Genetic models of fibrillinopathies. [PDF]

Genetics
Summers KM.
europepmc   +1 more source