Results 101 to 110 of about 3,083 (188)

Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis. [PDF]

Mol Syndromol
Tsujioka Y, Simsek Kiper PO, Unger S, Handa A, Kono T, Jinzaki M, Rossi A, Superti-Furga A, Nishimura G.   +8 more
europepmc   +1 more source

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants. [PDF]

Eur J Pediatr
Sharaf-Eldin W, Ghorab RM, Rafat K, Mahmoud H, Hassib N, Alahlafi A, Maroofian R, Gleeson JG, Essawi M, Zaki MS.   +9 more
europepmc   +1 more source

Ultrasound Diagnosis of Marfan Syndrome Complicated by Barlow Disease With Mitral Annular Disjunction: A Case Report. [PDF]

J Clin Ultrasound
Zhang XZ, Wang XZ, Zheng DP, Zhang ZJ.
europepmc   +1 more source

Coexistence of Neurofibromatosis Type 1 and Marfan Syndrome in a 13-Year-Old Boy: A Case Report. [PDF]

Am J Case Rep
Wieniawski P, Warych M, Kucińska B, Janiec I, Werner B.   +4 more
europepmc   +1 more source

Single-staged kyphoscoliosis correction using Smith-Petersen's osteotomy (SPO) in an adolescent with severe thoracolumbar kyphoscoliosis and Marfanoid habitus: a case report. [PDF]

Int J Surg Case Rep
Biakto KT, Singjie LC, Tandry M.
europepmc   +1 more source

A Case of Loeys-Dietz Syndrome Treated With Emergency Endovascular Repair for a Ruptured Internal Iliac Artery Aneurysm. [PDF]

Cureus
Matsuoka S, Asano R, Masuda M, Miyabayashi M, Fujii S.   +4 more
europepmc   +1 more source

Short stature with windswept deformity in a young girl. [PDF]

JCEM Case Rep
Sai Ramya V, Kumar S, Guddeti A, Hari Kumar KVS.   +3 more
europepmc   +1 more source

Beyond the Aorta: Incidental Atrial Septal Defect in a Patient With Marfan Syndrome and Severe Aortic Dilation. [PDF]

Cureus
Medina Santos FJ, Pérez Figueroa JE, Bonilla Figueroa RA, Acevedo Gómez KJ, Garro Almendaro AK, Cruz Villalobos RA, García Rodríguez JF.   +6 more
europepmc   +1 more source

Exploring cross-category relationships between symptoms in people with hypermobile EDS (hEDS) to identify disability patterns. [PDF]

PLoS One
Andrews J, Harkey Z, Mathena S, Galindo M, Hannon S, Jesudas R, Laukaitis CM.   +6 more
europepmc   +1 more source

Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases. [PDF]

Arch Clin Cases
Kodali AT, Schrunder ER, Kennedy LS, Chamberlin MD, Pineda CUA.   +4 more
europepmc   +1 more source