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Genetics of fetal growth restriction-Isolated is not syndromic: Comments on the paper entitled "Genetic syndromes associated with isolated fetal growth restriction" published in Prenatal Diagnosis, DOI: 10.1002/pd.5635.
- Published in:
- 2021
- By:
- Publication type:
- letter
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
- Published in:
- Nutrients, 2024, v. 16, n. 6, p. 812, doi. 10.3390/nu16060812
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- Publication type:
- Article
GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification.
- Published in:
- Ginekologia Polska, 2020, v. 91, n. 5, p. 287, doi. 10.5603/GP.2020.0049
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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
Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 23, p. 9187, doi. 10.3390/ijms21239187
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- Publication type:
- Article
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4564, doi. 10.3390/ijms21124564
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- Publication type:
- Article
Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT).
- Published in:
- Genes, 2024, v. 15, n. 3, p. 340, doi. 10.3390/genes15030340
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- Publication type:
- Article
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review.
- Published in:
- Genes, 2023, v. 14, n. 6, p. 1208, doi. 10.3390/genes14061208
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- Publication type:
- Article
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
- Published in:
- Genes, 2023, v. 14, n. 5, p. 972, doi. 10.3390/genes14050972
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- Publication type:
- Article
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.
- Published in:
- Genes, 2023, v. 14, n. 4, p. 803, doi. 10.3390/genes14040803
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- Publication type:
- Article
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 802, doi. 10.3390/genes13050802
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- Publication type:
- Article
Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1383, doi. 10.3390/genes11111383
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- Publication type:
- Article
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
- Published in:
- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 1, p. 161, doi. 10.5507/bp.2016.006
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- Publication type:
- Article
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.
- Published in:
- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2015, v. 159, n. 2, p. 333, doi. 10.5507/bp.2015.003
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- Publication type:
- Article
Alpha-1 Antitrypsin Z Variant (AAT PI*Z) as a Risk Factor for Intrahepatic Cholestasis of Pregnancy.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.720465
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- Publication type:
- Article
Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.674722
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- Publication type:
- Article
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 468, doi. 10.1111/cge.13822
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- Publication type:
- Article
FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 3, p. 274, doi. 10.1111/cge.13592
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- Publication type:
- Article
Novel COL12A1 variant as a cause of mild familial extracellular matrix‐related myopathy.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 421, doi. 10.1007/s10875-022-01390-7
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- Publication type:
- Article
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 11, p. 2657, doi. 10.1007/s00415-019-09466-y
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- Publication type:
- Article
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 8, p. 1438, doi. 10.3390/diagnostics11081438
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- Publication type:
- Article
Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 821, doi. 10.3390/diagnostics10100821
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- Publication type:
- Article
Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 738, doi. 10.3390/diagnostics10100738
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- Publication type:
- Article
EDITORIAL.
- Published in:
- Journal of Mother & Child, 2021, v. 25, n. 4, p. 243, doi. 10.34763/jmotherandchild.20212504.edit.2021_25_04
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- Publication type:
- Article
Editorial.
- Published in:
- Journal of Mother & Child, 2021, v. 25, n. 1, p. 1, doi. 10.34763/jmotherandchild.20212501.edit.2021_25_01
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- Publication type:
- Article
EDITORIAL.
- Published in:
- Journal of Mother & Child, 2020, v. 24, n. 4, p. 1
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- Publication type:
- Article
INTERSTITIAL LUNG DISEASE IN RARE CONGENITAL SYNDROMES.
- Published in:
- Journal of Mother & Child, 2020, v. 24, n. 1, p. 47, doi. 10.34763/jmotherandchild.2020241.1931.000004
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- Publication type:
- Article
Congenital Disorders of Glycosylation from a Neurological Perspective.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 88, doi. 10.3390/brainsci11010088
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- 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
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- Publication type:
- Article
Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1019283
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- Publication type:
- Article
Case report: Rare among ultrarare--Clinical odyssey of a new patient with Ogden syndrome.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.979377
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- Publication type:
- Article
Editorial: Inherited Protein Glycosylation Defects in Humans.
- Published in:
- 2022
- By:
- Publication type:
- Editorial
Is leucodystrophy really a feature of PIGT‐CDG?
- Published in:
- Neuropathology & Applied Neurobiology, 2020, v. 46, n. 6, p. 615, doi. 10.1111/nan.12609
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- Publication type:
- Article
Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment.
- Published in:
- Children, 2021, v. 8, n. 7, p. 1, doi. 10.3390/children8070532
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- Publication type:
- Article
The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.
- Published in:
- Children, 2021, v. 8, n. 3, p. 1, doi. 10.3390/children8030251
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- Publication type:
- Article
Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 922, doi. 10.1002/ajmg.a.34440
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- Publication type:
- Article
Stosowanie farmakologicznych chaperonów w leczeniu wrodzonych chorób metabolicznych.
- Published in:
- Advances in Biochemistry / Postepy Biochemii, 2022, v. 68, n. 3, p. 255, doi. 10.18388/pb.2021_451
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- Publication type:
- Article
Differences between predicted and established diagnoses of Smith‐Lemli‐Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 241, doi. 10.1007/s10545-010-9132-4
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- Publication type:
- Article
Beyond the lungs: Alpha-1 antitrypsin's potential role in human gestation.
- Published in:
- Advances in Clinical & Experimental Medicine, 2019, v. 28, n. 9, p. 1257, doi. 10.17219/acem/103668
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- Publication type:
- Article
POLISH ACTIVITY WITHIN ORPHANET EUROPE - STATE OF ART OF DATABASE AND SERVICES.
- Published in:
- Developmental Period Medicine, 2015, v. 19, n. 4, p. 536
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- Publication type:
- Article
Genetyczne i molekularne podłoża rozwoju glejaka.
- Published in:
- Advances in Biochemistry / Postepy Biochemii, 2023, v. 69, n. 4, p. 254, doi. 10.18388/pb.2021_495
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- Publication type:
- Article
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 2, p. 141, doi. 10.5114/pedm.2022.116116
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- 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
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- Publication type:
- Article
Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state‐of‐the art review.
- Published in:
- Clinical Respiratory Journal, 2020, v. 14, n. 5, p. 422, doi. 10.1111/crj.13150
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- Publication type:
- Article
SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1708, doi. 10.3390/jcm12051708
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- Publication type:
- Article
Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4890, doi. 10.3390/jcm10214890
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- Publication type:
- Article
Nonimmune Hydrops Fetalis—Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 6, p. 1789, doi. 10.3390/jcm9061789
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- Publication type:
- Article
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1647, doi. 10.1002/ajmg.a.37641
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- Publication type:
- Article
The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2541, doi. 10.1002/ajmg.a.36686
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- Publication type:
- Article