Results 161 to 170 of about 3,806 (220)

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

Congenital contractural arachnodactyly.

Indian pediatrics, 1996
M L, Kulkarni, C S, Kumar, V, Venkataramana, V G, George, M, Bhagyavathi   +4 more
openaire   +1 more source

Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations. [PDF]

Int J Mol Sci
Butnariu LI, Russu G, Luca AC, Sandu C, Trandafir LM, Vasiliu I, Popa S, Ghiga G, Bălănescu L, Țarcă E.   +9 more
europepmc   +1 more source

Spontaneous pneumothorax-associated with genetic disorders. [PDF]

Ther Adv Respir Dis
Chen X, Ryu JH, Hu X.
europepmc   +1 more source

Acute Transverse Myelitis in a Patient With Type 2 Loeys-Dietz Syndrome: A Report of a Rare Case From India. [PDF]

Cureus
Parida S, Pathak A, Mishra VN.
europepmc   +1 more source

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly. [PDF]

Biochem Genet
Zhang C, Qiao F, Cheng Q, Luo C, Zhang Q, Hu P, Xu Z.   +6 more
europepmc   +1 more source

Functional analysis of a novel <i>FBN1</i> deep intronic variant causing Marfan syndrome in a Chinese patient. [PDF]

Front Genet
Wang Q, Zhang F, Zhou X, Li H, Zhao J, Yuan H.   +5 more
europepmc   +1 more source

[ARACHNODACTYLY].

Pediatria polska, 1996
openaire   +1 more source

Congenital contractural arachnodactyly.

The Western journal of medicine, 1974
M S, Hale, H D, Rodman, J, Lipshin
openaire   +1 more source

Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings. [PDF]

J Hum Genet
Magee K, McGonigle W, Pressman R, Thorson W, Barbouth D, Borja NA.   +5 more
europepmc   +1 more source