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1.
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Br J Haematol
; 182(2): 251-258, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29797310
2.
Dominant inherited ß-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.
Pediatr Blood Cancer
; 70(10): e30511, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37353956
3.
Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.
Pediatr Blood Cancer
; 64(3)2017 03.
Article
in English
| MEDLINE | ID: mdl-27718309
4.
Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.
Pediatr Blood Cancer
; 63(5): 914-6, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26728349
5.
High-resolution analysis of alterations in medullary thyroid carcinoma genomes.
Int J Cancer
; 131(2): E66-73, 2012 Jul 15.
Article
in English
| MEDLINE | ID: mdl-22038905
6.
Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.
Eur J Pediatr
; 171(11): 1711-5, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22576805
7.
Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor.
Front Immunol
; 13: 869047, 2022.
Article
in English
| MEDLINE | ID: mdl-35812385
8.
Copy Number Changes and Allele Distribution Patterns of Chromosome 21 in B Cell Precursor Acute Lymphoblastic Leukemia.
Cancers (Basel)
; 13(18)2021 Sep 13.
Article
in English
| MEDLINE | ID: mdl-34572826
9.
Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome.
Front Pediatr
; 8: 589812, 2020.
Article
in English
| MEDLINE | ID: mdl-33553065
10.
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Hemasphere
; 8(1): e31, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38434532
11.
Evidence of a polyclonal nature of myositis ossificans.
Virchows Arch
; 446(4): 438-41, 2005 Apr.
Article
in English
| MEDLINE | ID: mdl-15761759
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