Found: 11
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Hypogonadism -- when does genetic diagnosis help in therapy?
- Published in:
- Ginekologia Polska, 2024, v. 95, n. 4, p. 245, doi. 10.5603/gpl.97327
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- Publication type:
- Article
The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9459, doi. 10.3390/ijms24119459
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- Publication type:
- Article
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 6, p. 1, doi. 10.1007/s00018-022-04343-w
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- Publication type:
- Article
Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.
- Published in:
- PLoS ONE, 2022, v. 17, n. 5, p. 1, doi. 10.1371/journal.pone.0268859
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- Publication type:
- Article
The genetic basis of classical galactosaemia in Polish patients.
- Published in:
- 2021
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- Publication type:
- Letter
The genetic basis of classical galactosaemia in Polish patients.
- Published in:
- 2021
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- Publication type:
- letter
Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 785, doi. 10.3390/genes12050785
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- Publication type:
- Article
THE RETROSPECTIVE MOLECULAR ANALYSIS OF LARGE OR GIANT CONGENITAL MELANOCYTIC NEVI IN A GROUP OF POLISH CHILDREN.
- Published in:
- Journal of Mother & Child, 2021, v. 25, n. 1, p. 19, doi. 10.34763/jmotherandchild.20212501.d-21-00007
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- Publication type:
- Article
Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00046
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- Publication type:
- Article
CHRONIC PANCREATITIS IN A PATIENT WITH THE p.Asn34Ser HOMOZYGOUS SPINK1 MUTATION - OWN EXPERIENCE.
- Published in:
- Developmental Period Medicine, 2015, v. 19, n. 3Part2, p. 347
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- Publication type:
- Article
Gene Conversion Between Cationic Trypsinogen ( PRSS1) and the Pseudogene Trypsinogen 6 ( PRSS3P2) in Patients with Chronic Pancreatitis.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 350, doi. 10.1002/humu.22747
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- Publication type:
- Article