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Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

American journal of hematology, 2018-02, Vol.93 (2), p.205-212

2018

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Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency

Human mutation, 1997, Vol.10 (6), p.430-435

1997

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Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13

American journal of medical genetics, 1997-06, Vol.70 (3), p.222-228

1997

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Dynamics of meteorological time series on the base of ground measurements and retrospective data from MERRA‐2 for Poland

International journal of climatology, 2021-01, Vol.41 (S1), p.E1531-E1552

2021

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The systemic control of circadian gene expression

Diabetes, obesity & metabolism, 2015-09, Vol.17 (S1), p.23-32

2015

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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

Clinical genetics, 2018-11, Vol.94 (5), p.450-456

2018

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Transient Elastography (FibroScan) Is Not Correlated With Liver Fibrosis but With Cholestasis in Patients With Long-Term Home Parenteral Nutrition

JPEN. Journal of parenteral and enteral nutrition, 2015-08, Vol.39 (6), p.719-724

2015

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Cross-organism analysis using InterMine

Genesis (New York, N.Y. : 2000), 2015-08, Vol.53 (8), p.547-560

2015

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Rare case of multiple self-inflicted gunshot wounds to the chest in Poland

Journal of forensic sciences, 2024-06

2024

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Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation

Human mutation, 2014-08, Vol.35 (8), p.927-935

2014

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Development of an SBU‐Based Mechanochemical Approach for Drug‐Loaded MOFs

European journal of inorganic chemistry, 2020-03, Vol.2020 (10), p.796-800

2020

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Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2310-2316

2014

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MAP2K2 mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease

American journal of medical genetics. Part A, 2018-07, Vol.176 (7), p.1670-1674

2018

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Specialized sperm function tests in varicocele and the future of andrology laboratory

Asian journal of andrology, 2016-03, Vol.18 (2), p.205-212

2016

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Destabilization of mutated human PUS3 protein causes intellectual disability

Human mutation, 2022-12, Vol.43 (12), p.2063-2078

2022

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Insights into olfactory ensheathing cell development from a laser‐microdissection and transcriptome‐profiling approach

Glia, 2020-12, Vol.68 (12), p.2550-2584

2020

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Conditional neutrality at two adjacent NBS‐LRR disease resistance loci in natural populations of Arabidopsis lyrata

Molecular ecology, 2008-12, Vol.17 (23), p.4953-4962

2008

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Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

Muscle & nerve, 2017-02, Vol.55 (2), p.277-281

2017

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Challenges in the annotation of pseudoenzymes in databases: the UniProtKB approach

The FEBS journal, 2020-10, Vol.287 (19), p.4114-4127

2020

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Cross-equatorial structure and temporal modulation of intraseasonal variability at the surface of the Tropical Atlantic Ocean

Journal of Geophysical Research - Oceans, 2008-08, Vol.113 (C8), p.C08020-n/a

2008

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The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

Muscle & nerve, 2019-01, Vol.59 (1), p.129-133

2019

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Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1337-1341

2015

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Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase

Human mutation, 2008-03, Vol.29 (3), p.361-366

2008

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Caenorhabditis elegans phosphatase complexes in UniProtKB and Complex Portal

The FEBS journal, 2020-07, Vol.287 (13), p.2664-2684

2020

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TrkB expression level correlates with metastatic properties of L1 mouse sarcoma cells cultured in non-adhesive conditions

Cell proliferation, 2013-04, Vol.46 (2), p.146-152

2013

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Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency

Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13

Dynamics of meteorological time series on the base of ground measurements and retrospective data from MERRA‐2 for Poland

The systemic control of circadian gene expression

The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

Transient Elastography (FibroScan) Is Not Correlated With Liver Fibrosis but With Cholestasis in Patients With Long-Term Home Parenteral Nutrition

Cross-organism analysis using InterMine

Rare case of multiple self-inflicted gunshot wounds to the chest in Poland

Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation

Development of an SBU‐Based Mechanochemical Approach for Drug‐Loaded MOFs

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

MAP2K2 mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease

Specialized sperm function tests in varicocele and the future of andrology laboratory

Destabilization of mutated human PUS3 protein causes intellectual disability

Insights into olfactory ensheathing cell development from a laser‐microdissection and transcriptome‐profiling approach

Conditional neutrality at two adjacent NBS‐LRR disease resistance loci in natural populations of Arabidopsis lyrata

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

Challenges in the annotation of pseudoenzymes in databases: the UniProtKB approach

Cross-equatorial structure and temporal modulation of intraseasonal variability at the surface of the Tropical Atlantic Ocean

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing

Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase

Caenorhabditis elegans phosphatase complexes in UniProtKB and Complex Portal

TrkB expression level correlates with metastatic properties of L1 mouse sarcoma cells cultured in non-adhesive conditions

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