Results 131 to 140 of about 3,635 (200)

Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report. [PDF]

J Med Case Rep
Wu LL, Zhang L, Tang TT, Zhou YY, Chang XX, Guo W, Yan HM, Lin HD.   +7 more
europepmc   +1 more source

A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review. [PDF]

BMC Med Genomics
Yan X, Li Z, Huang S, Yang X, Chang M, Cheng Z, Zhou LT.   +6 more
europepmc   +1 more source

<i>MYH9</i> Variant p.(Arg424Gly) Alters Nonmuscle Myosin IIA Contraction, Causing Atypical <i>MYH9</i>-related Disease. [PDF]

Kidney Int Rep
Pollinger L, Greve JN, Grosch M, Kaliman S, Abuhattum S, Kräter M, Brauer I, Schaefer JT, Pasutto F, Wiesener A, Wopperer FJ, Kolb C, Lehmann CHK, Hoerning A, Daniel C, Amann K, Guck J, Schiffer M, Manstein DJ, Wiesener MS, Jobst-Schwan T.   +20 more
europepmc   +1 more source

Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome. [PDF]

BMC Endocr Disord
Deligözoğlu D, Köseoğlu GM, Kılıç E, Tepe D, Kocaay P.   +4 more
europepmc   +1 more source

Thrombocytopenia, renal failure and hearing loss in a young patient: MYH9-related disorder. [PDF]

BMJ Case Rep
Nukala S, Aparna F, Feliciano M, Withey JL.   +3 more
europepmc   +1 more source

Macrothrombocytopenia with mitral valve insufficiency [PDF]

, 2020
openaire   +1 more source

Macrothrombocytopenia, psychomotor retardation, and nephropathy: A novel familial syndrome

Saudi Journal of Kidney Diseases and Transplantation, 2014
Kamal F Akl, Abdul Karim Qudah, Abdalla Awidi, Mohammad Jaber Suleiman, Nidaa Ababneh, Nazzal Bsoul, Ahmad Magablah   +6 more
doaj   +1 more source

Hereditary thrombocytopenias: the challenge of increasing frequency and differential diagnosis. [PDF]

Hematol Transfus Cell Ther
Çiftçiler R.
europepmc   +1 more source

Subcutaneous nodules on the elbows of a teenager. [PDF]

JAAD Case Rep
Haveric A, Rhein JG, Lee JB, Waseh S, Hsu S, Metkowski AR.   +5 more
europepmc   +1 more source

Coexistence of Immune Thrombocytopenic Purpura and Bernard-Soulier Syndrome: A Rare Pediatric Case Report. [PDF]

Int Med Case Rep J
Alsharidah S, Almatar E, Lutfi R, Hashem OA.   +3 more
europepmc   +1 more source