Results 121 to 130 of about 2,254,317 (172)
New insights into the genetics of congenital neutropenia
Turkish Journal of Hematology, 2009 Several congenital disorders may cause neutropenia. The recent advances in the field of molecular biology have facilitated our knowledge concerning pathophysiological mechanisms leading to these disorders.
Namık Özbek
doaj
Bone marrow failure syndromes and refractory cytopenia of childhood [PDF]
, 2014 __Abstract__ Hematopoiesis, or blood cell production, is sustained through hematopoietic stem cells, which are self-renewing cells that reside in the bone marrow, and that are capable of producing daughter cells that proliferate and mature to provide ...
Aalbers, A.M. (Anna Maartje)
core
Preleukemia: one name, many meanings. [PDF]
, 2017 Definition of preleukemia has evolved. It was first used to describe the myelodysplastic syndrome (MDS) with a propensity to progress to acute myeloid leukemia (AML). Individuals with germline mutations of either RUNX1, CEBPA, or GATA2 can also be called
Koeffler, HP, Leong, G
core
Proteolytic autodigestion: Common tissue pathology in Shwachman-Diamond syndrome? [PDF]
, 2014 Daley, George Q +2 more
core +1 more source
Systemic Lupus Erythematosus in Shwachman-Diamond Syndrome: a Novel Phenotype. [PDF]
J Clin Immunol, 2023 Zhang T, Yu Z, Gao S, Wang L, Song H.
europepmc +1 more source
Recent progress in congenital diarrheal disorders. [PDF]
, 2011 BERNI CANANI, ROBERTO, Terrin G.
core +3 more sources
Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms. [PDF]
Cold Spring Harb Mol Case Stud, 2022 Spangenberg MN +7 more
europepmc +1 more source
CLONAL HEMATOPOIESIS IN SHWACHMAN DIAMOND SYNDROME: BIOLOGY AND CLINICAL IMPLICATIONS
EJC Paediatric Oncology, 2023 Akiko Shimamura
doaj +1 more source
SHWACHMAN-DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY. [PDF]
Retin Cases Brief RepZhang J +3 more
europepmc +1 more source