Results 131 to 140 of about 1,472 (192)

The role of genetics and molecular mechanisms in early onset scoliosis. [PDF]

J Clin Orthop Trauma
Feng S, Du Y, Choi SW, Cheung KSC, Cheung JPY, Su Z.   +5 more
europepmc   +1 more source

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects. [PDF]

Int J Mol Sci
Zodanu GKE, Hwang JH, Mehta Z, Sisniega C, Barsegian A, Kang X, Biniwale R, Si MS, Satou GM, Halnon N, Ucla Congenital Heart Defect BioCore Faculty, Grody WW, Van Arsdell GS, Nelson SF, Touma M.   +14 more
europepmc   +1 more source

Management of failed carpal tunnel decompression. [PDF]

EFORT Open Rev
Decramer A, Heras-Palou C, Van Nuffel M, Lattré T, Degreef I.   +4 more
europepmc   +1 more source

A Familial Thoracic Aortic and Arterial Aneurysm Syndrome Associated With FBN2 (Y1311C) and MYH11 (R34T) Variants: A Multigenerational Case Report. [PDF]

Cureus
Purvez A, Mir A, Bashir M.
europepmc   +1 more source

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の1症例

, 1993
邦義 津田, 隆彦 森口, 孝臣〔他〕 浜中   +2 more
openalex   +1 more source

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

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

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