Found: 25
Select item for more details and to access through your institution.
CRISPR activation screen in mice identifies novel membrane proteins enhancing pulmonary metastatic colonisation.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01912-w
- By:
- Publication type:
- Article
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 2, p. 641, doi. 10.1007/s11011-018-0357-5
- By:
- Publication type:
- Article
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
- Published in:
- Pediatrics International, 2014, v. 56, n. 4, p. 520, doi. 10.1111/ped.12281
- By:
- Publication type:
- Article
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 3, p. 398, doi. 10.3390/biom12030398
- By:
- Publication type:
- Article
Polish 2012 growth references for preschool children.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 6, p. 753, doi. 10.1007/s00431-013-1954-2
- By:
- Publication type:
- Article
The importance of anthropological methods in the diagnosis of rare diseases.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 4, p. 311, doi. 10.1515/jpem-2018-0433
- By:
- Publication type:
- Article
Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status.
- Published in:
- Acta Paediatrica, 2012, v. 101, n. 4, p. e183, doi. 10.1111/j.1651-2227.2011.02522.x
- By:
- Publication type:
- Article
FBXO7 sensitivity of phenotypic traits elucidated by a hypomorphic allele.
- Published in:
- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0212481
- By:
- Publication type:
- Article
Pulmonary metastatic colonisation and granulomas in NOX2‐deficient mice.
- Published in:
- Journal of Pathology, 2018, v. 246, n. 3, p. 300, doi. 10.1002/path.5140
- By:
- Publication type:
- Article
Association between clinical stage of oral cancer and expression of immunohistochemical markers.
- Published in:
- Polish Journal of Surgery, 2017, v. 89, n. 6, p. 17, doi. 10.5604/01.3001.0010.6736
- By:
- Publication type:
- Article
Ultrasonographic Features of Hip Joints in Mucopolysaccharidoses Type I and II.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123792
- By:
- Publication type:
- Article
The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085074
- By:
- Publication type:
- Article
Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.
- Published in:
- 2022
- By:
- Publication type:
- journal article
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 82, doi. 10.1002/jmd2.12086
- By:
- Publication type:
- Article
Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate.
- Published in:
- Diagnostics (2075-4418), 2024, v. 14, n. 17, p. 1956, doi. 10.3390/diagnostics14171956
- By:
- Publication type:
- Article
Relationship between Selected Cephalometric Parameters, Nasolabial Angle and Its Components in Adolescent Females.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 6, p. 1199, doi. 10.3390/diagnostics13061199
- By:
- Publication type:
- Article
Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 2, p. 116, doi. 10.3390/diagnostics10020116
- By:
- Publication type:
- Article
Bone metabolism in patients with mucopolysaccharidosis type II.
- Published in:
- Rheumatology / Reumatologia, 2014, v. 52, n. 6, p. 354, doi. 10.5114/reum.2014.47228
- By:
- Publication type:
- Article
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.
- Published in:
- G3: Genes | Genomes | Genetics, 2020, v. 10, n. 6, p. 1869, doi. 10.1534/g3.120.401128
- By:
- Publication type:
- Article
A high-throughput in vivo screening method in the mouse for identifying regulators of metastatic colonization.
- Published in:
- Nature Protocols, 2017, v. 12, n. 12, p. 2465, doi. 10.1038/nprot.2017.118
- By:
- Publication type:
- Article
Anthropometric Phenotype of Patients with PMM2-CDG.
- Published in:
- Children, 2021, v. 8, n. 10, p. 1, doi. 10.3390/children8100852
- By:
- Publication type:
- Article
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 450, doi. 10.1002/ajmg.a.34415
- By:
- Publication type:
- Article
Growth patterns in children with mucopolysaccharidosis I and II.
- Published in:
- World Journal of Pediatrics, 2015, v. 11, n. 3, p. 226, doi. 10.1007/s12519-014-0517-6
- By:
- Publication type:
- Article
Nicotine and Cytisine Embryotoxicity in the Experimental Zebrafish Model.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12094, doi. 10.3390/ijms241512094
- By:
- Publication type:
- Article
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11424, doi. 10.3390/ijms231911424
- By:
- Publication type:
- Article