Results 81 to 90 of about 3,045 (166)

Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease. [PDF]

Kidney Int Rep
Schecter DR, Tinker RJ, O'Connell P, Pang J, SzeKing Lee S, Kars ME, Guvenek A, Preuss M, Itan Y, Morava E, Kozicz T, Hirano M, Naini A, Ganesh J.   +13 more
europepmc   +1 more source

Reframing-renaming(?)-myelodysplastic syndromes/neoplasms and clonal hematopoiesis of indeterminate potential. [PDF]

Leukemia
Lee NC, Miao R, Young NS.
europepmc   +1 more source

Biallelic IARS2 mutations presenting as sideroblastic anemia

Haematologica, 2020
Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann   +15 more
doaj   +1 more source

Sideroblastic anemia in children: challenges in diagnosis and management in three cases. [PDF]

Ann Hematol
Rekaya S, Ben Fraj I, Hamdi R, Ben Taieb A, Merdassi A, Jouini H, Zarrouk H, Zaiter I, Kouki R, Bejaoui M, Mellouli F, Ben Khaled M, Ouederni M.   +12 more
europepmc   +1 more source

Regulatory networks of iron sulfur cluster biology in cancer mechanisms and therapeutic perspectives. [PDF]

iScience
Yao S, Guan H, Chai J, Liu X.
europepmc   +1 more source

The obstetric hematology joint clinic in Qatar: experience since 2020. [PDF]

Ther Adv Reprod Health
Elkourashy SA, Elmallahi N, Bappa L, Elshafey N, Jacob S, Musa SO, Mathew A, Abuyaqoub S.   +7 more
europepmc   +1 more source

Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia. [PDF]

Am J Hematol
Jiang D, Sampino EV, Rosenlind K, Campagna DR, DiTroia S, Fleming MD, Keel SB.   +6 more
europepmc   +1 more source

Hyperferritinemia as a Clue to Neuroendocrine Carcinoma. [PDF]

Cureus
Chao ES, Yoshikawa G, Qing X, Huang C.
europepmc   +1 more source

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

Turkish Journal of Hematology, 2017
Çiğdem Seher Kasapkara, Leyla Tümer, Nadia Zanetti, Fatih Ezgü, Eleonora Lamantea, Massimo Zeviani   +5 more
doaj   +1 more source

Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number. [PDF]

Ann Hematol
Ammar M, Kmiha S, Maalej M, Felhi R, Kharrat M, Alila-Fersi O, Chouchen J, Maaloul I, Mkaouar-Rebai E, Kammoun T, Tlili A, Fakhfakh F.   +11 more
europepmc   +1 more source