Results 101 to 110 of about 2,852 (190)

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

Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome. [PDF]

Mol Syndromol
Doğan Arı AB, Arı H, Sezer A, Ağırbaşlı D, Kurnaz E, Savaş Erdeve Ş, Kılıç E.   +6 more
europepmc   +1 more source

Arachnodactyly in a Chinese infant [PDF]

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

Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases. [PDF]

Cell Tissue Res
Li Z, Wang S, Blaydon DC, Kelsell DP.
europepmc   +1 more source

Congenital contractural arachnodactyly

, 2020

core   +2 more sources

Ehlers-Danlos Syndrome: A Tale of Two Cases Highlighting Rare Subtypes and Diagnostic Considerations. [PDF]

Cureus
Pati K, Tripathy SR, Patnaik SS, Parida MK, Das BK.   +4 more
europepmc   +1 more source

ARACHNODACTYLY

, 1935
RALPH I. LLOYD
core   +1 more source

Cataracta Pulverulenta in Marfan Syndrome: An Atypical Ocular Presentation: Case Report. [PDF]

Rom J Ophthalmol
Geetanjali C, Santosh K, Kumar SV, Manendra S, Ayusha R, Sonam V, Maariyam BM.   +6 more
europepmc   +1 more source

Characterization of a New PRKG1 Mutation Associated With Thoracic Aortic Aneurysm and Dissection. [PDF]

JACC Basic Transl Sci
Casteel DE.
europepmc   +1 more source

Labor Analgesia in a Patient With Beals Syndrome: A Case Report of Management Challenges. [PDF]

Cureus
Laranjeira J, Katerenchuk V, Duarte J, Lérias-Cambeiro M, Lança F.   +4 more
europepmc   +1 more source