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- 2024
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Mark
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study
(
- Contribution to journal › Article
- 2023
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Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023) In European Journal of Human Genetics(
- Contribution to journal › Article
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Mark
Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
(
- Contribution to journal › Article
- 2022
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Mark
Implementing precision medicine in a regionally organized healthcare system in Sweden
(
- Contribution to journal › Letter
- 2021
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Mark
Helgenomanalys vid sällsynta diagnoser ger stor patientnytta
(
- Contribution to specialist publication or newspaper › Specialist publication article
- 2020
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Mark
p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids
(
- Contribution to journal › Article
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Mark
Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells
2020) In Proceedings of the National Academy of Sciences of the United States of America 117(33). p.20127-20138(
- Contribution to journal › Article
- 2019
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Mark
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
(
- Contribution to journal › Article
- 2016
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Mark
Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
(
- Contribution to journal › Article
- 2015
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Mark
No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.
(
- Contribution to journal › Article
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Mark
The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.
(
- Contribution to journal › Article
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Mark
The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013.
(
- Contribution to journal › Article
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Mark
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2014
-
Mark
Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries
(
- Contribution to journal › Article
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Mark
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
(
- Contribution to journal › Article
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Mark
The Roots of Autism and ADHD Twin Study in Sweden (RATSS)
(
- Contribution to journal › Article
- 2013
-
Mark
High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols
(
- Contribution to journal › Article
- 2012
-
Mark
Homozygous deletions of CDKN2A are present in all dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation
(
- Contribution to journal › Letter
-
Mark
High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome.
(
- Contribution to journal › Article
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Mark
Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol
(
- Contribution to journal › Letter
- 2011
-
Mark
Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols.
(
- Contribution to journal › Article
- 2009
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Mark
Expression of VEGF and VEGF Receptors in Childhood Precursor B-cell Acute Lymphoblastic Leukemia Evaluated by Immunohistochemistry.
(
- Contribution to journal › Article
-
Mark
Expression Of Pten And Shp1, Investigated From Tissue Microarrays In Pediatric Acute Lymphoblastic, Leukemia
(
- Contribution to journal › Article
-
Mark
Relapsed Childhood High Hyperdiploid Acute Lymphoblastic Leukemia: Genome-Wide Screening Reveals the Presence of Preleukemic Ancestral Clones and the Secondary Nature of Microdeletions and RTK-RAS Mutations
(
- Contribution to journal › Published meeting abstract
-
Mark
Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: Rare T-cell receptor gene rearrangements are associated with poor outcome.
(
- Contribution to journal › Article
- 2008
-
Mark
U-2973, a novel B-cell line established from a patient with a mature B-cell leukemia displaying concurrent t(14;18) and MYC translocation to a non-IG gene partner.
(
- Contribution to journal › Article
-
Mark
Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding
(
- Contribution to journal › Article
-
Mark
Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival
(
- Contribution to journal › Article
-
Mark
Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-Cell precursor acute lymphoblastic leukemias: A nordic series of 24 cases and review of the literature
(
- Contribution to journal › Scientific review
- 2007
-
Mark
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
(
- Contribution to journal › Article
-
Mark
Cytogenetic patterns in ETV6/RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia: A Nordic series of 245 cases and review of the literature
(
- Contribution to journal › Scientific review
- 2006
-
Mark
Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2
(
- Contribution to journal › Article
- 2003
-
Mark
Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001.
(
- Contribution to journal › Article
- 2001
-
Mark
Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping
(
- Contribution to journal › Article
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Mark
Limitations of chromosome classification by multicolor karyotyping
(
- Contribution to journal › Article