Results 31 to 40 of about 2,491 (128)

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

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

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

De novo variants in ATP2B1 lead to neurodevelopmental delay. [PDF]

Am J Hum Genet
Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Jamra RA, Oppermann H.   +35 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

Marfan Syndrome-Comprehensive Dental/Surgical Management: Clinical Case Report. [PDF]

Int J Clin Pediatr Dent
Valdiviezo JP, Hidalgo AC, Tates MR, Ron BV.   +3 more
europepmc   +1 more source

Arachnodactyly in a Chinese infant [PDF]

Archives of Disease in Childhood, 1941
openaire   +2 more sources

A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation. [PDF]

HGG Adv
Ng BG, Zhang W, Neil JE, Danish M, Marafi D, Kamal TM, Bastaki L, Al Saffar M, Yang E, He M, Walsh CA, Mochida GH, Freeze HH.   +12 more
europepmc   +1 more source

Elastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome. [PDF]

Cureus
Cohen PR.
europepmc   +1 more source

Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome. [PDF]

Hum Genome Var
Oba D, Sagara M, Oda S, Fukushima M, Hasumi K, Ohashi H.   +5 more
europepmc   +1 more source