Results 111 to 120 of about 3,083 (188)

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

Genetic Causes of Thoracic Aortic Aneurysm: A Review. [PDF]

Methodist Debakey Cardiovasc J
Wittenberg RE, Lindsay ME.
europepmc   +1 more source

Late Loeys-Dietz Syndrome Diagnosis in an Adolescent With Severe Phenotype. [PDF]

JACC Case Rep
James L, Husain N, Langas SJ, Baker J, McMillan KN, Vricella L, Camarda J.   +6 more
europepmc   +1 more source

Spontaneous Vertebral Artery Dissection as the Heralding Manifestation of Previously Undiagnosed Marfan Syndrome in a Young Adult with Posterior Circulation Stroke: A Case Report. [PDF]

Reports (MDPI)
Alkhadrawi AM, Saad J, Alsaleem A, Al-Hariri M, Alzubair F.   +4 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

ARACHNODACTYLY

, 1949
LUCILLE J. ROSS
core   +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

Marfan-Like Clinical Features in DLG4 (Discs Large MAGUK Scaffold Protein 4)-Related Synaptopathy: A Brazilian Case Report. [PDF]

Cureus
Giraudon J, De Rizzo Cantoni Rosa AC, Vieira Fernandes MF, Salles Rosa Neto N.   +3 more
europepmc   +1 more source