Results 121 to 130 of about 3,083 (188)

Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review. [PDF]

Hum Genome Var
Bazmi H, Jabbarpour N, Asghari AA, Bonaydi M, Motamedi A, Barzegar M.   +5 more
europepmc   +1 more source

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous <i>SLC2A10</i> p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization. [PDF]

Int J Mol Sci
Bozlak S, Yavas C, Yalcin E, Seflekci Y, Dogan T, Ece A, Akyel NG, Yuksel A.   +7 more
europepmc   +1 more source

ARACHNODACTYLY

, 1935
RALPH I. LLOYD
core   +1 more source

Double Aortic Arch in a Patient with Neurofibromatosis Type 1: Expanding the Spectrum of Neurofibromatosis-Associated Vascular Anomalies. [PDF]

Ann Thorac Surg Short Rep
Chaaban MK, Melville D, Womack Y, Dandurand K, Trujillo I, Pittelkow M, Babovic-Vuksanovic D, Shamoun F, Baudhuin LM, Osundiji MA.   +9 more
europepmc   +1 more source

Aortic Aneurysm Associated with Arachnodactyly [PDF]

BMJ, 1951
openaire   +2 more sources

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

Brittle cornea syndrome: Integrating unique presentations and novel management options. [PDF]

Oman J Ophthalmol
Balakrishnan J, Bari A, Maharana PK, Agarwal T, Dada T, Sharma N.   +5 more
europepmc   +1 more source

Arachnodactyly

, 2017
Michael Schwenk, John H. Duffus, Douglas M. Templeton   +2 more
core   +1 more source

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

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