Results 151 to 160 of about 3,635 (200)

Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome. [PDF]

Haematologica
Lordier L, Di Buduo CA, Kauskot A, Balayn N, Lavenu-Bombled C, Baschieri F, Proulle V, Oyarzun CPM, Careddu F, Biunno I, Manoliu T, Rameau P, Plo I, Papadopoulos N, Constantinescu S, Vainchenker W, Nguyen GN, Ballerini P, Favier R, Balduini A, Raslova H.   +20 more
europepmc   +1 more source

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders. [PDF]

Res Pract Thromb Haemost
Gök V, Ozcan A, Mutlu FT, Yılmaz E, Kocak Göl D, Ozay M, Demir B, Taskiran H, Bas H, Mutlu MB, Dogan ME, Bisgin A, Somekh I, Rohlfs M, Dundar M, Ozkul Y, Klein C, Karakukcu M, Unal E.   +18 more
europepmc   +1 more source

Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia. [PDF]

J Paediatr Child Health
Gamage D, Chisholm K, Kilo T, Ooi SE, Srinivasan S.   +4 more
europepmc   +1 more source

<i>Novel</i> variant in <i>MYH9</i> in a child with proteinuria and thrombocytopenia: a case report and literature review. [PDF]

Front Pediatr
Xie DF, Zhu L, Wang XM, Li Y, Zhou P.
europepmc   +1 more source

Severe Thrombocytopenia Is Associated with a Genetic Variant in the Helicase Domain of <i>SLFN14</i> Gene: A Case Report. [PDF]

EJHaem
Yang K, Fu P, Xu J, Jiang H, Yu J, Luo C, Gu J.   +6 more
europepmc   +1 more source

<i>GNE</i>-related severe congenital macro-thrombocytopenia in pregnancy. [PDF]

Obstet Med
P S, Pegu B, Subbaiah M, D P, Manivannan P, Dorairajan G.   +5 more
europepmc   +1 more source

From Xanthomas to Genetic Diagnosis: A Case Report of Sitosterolemia in an Infant with a Homozygous ABCG5 c.1166G>A (p.Arg389His) Variant. [PDF]

Clin Cosmet Investig Dermatol
Deng Y, Wang H, Tang D, Peng CE.
europepmc   +1 more source

Hereditary macrothrombocytopenia, deafness, nephropathy.

Haematologica, 1988
openaire   +1 more source