Found: 24
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Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 6, p. 1847, doi. 10.1007/s00467-023-06262-9
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- Publication type:
- Article
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The pediatric common variable immunodeficiency — from genetics to therapy: a review.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 4, p. 1371, doi. 10.1007/s00431-021-04287-6
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- Publication type:
- Article
Compound craniosynostosis, intellectual disability, and Noonan‐like facial dysmorphism associated with 7q32.3‐q35 deletion.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 10, p. 740, doi. 10.1002/bdr2.1744
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- Publication type:
- Article
A novel biallelic splice‐site variant in the LRP4 gene causes sclerosteosis 2.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 9, p. 652, doi. 10.1002/bdr2.1676
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- Publication type:
- Article
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes--Challenges for the Accurate Diagnosis.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.931822
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- Publication type:
- Article
Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.759129
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- Publication type:
- Article
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 2014, doi. 10.3390/genes12122014
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- Publication type:
- Article
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb–polysyndactyly syndrome changes the pattern of local interactions.
- Published in:
- Molecular Genetics & Genomics, 2022, v. 297, n. 5, p. 1343, doi. 10.1007/s00438-022-01921-2
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- Publication type:
- Article
Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?
- Published in:
- Japanese Journal of Ophthalmology, 2020, v. 64, n. 2, p. 134, doi. 10.1007/s10384-020-00715-6
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- Publication type:
- Article
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02480-w
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- Publication type:
- Article
Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.692978
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- Publication type:
- Article
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.580477
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- Publication type:
- Article
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.593407
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- Publication type:
- Article
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61048-5
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- Publication type:
- Article
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
- Published in:
- Frontiers in Endocrinology, 2020, v. 11, p. 1, doi. 10.3389/fendo.2020.00368
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- Publication type:
- Article
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 205, doi. 10.1002/ajmg.a.63015
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- Publication type:
- Article
WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3071, doi. 10.1002/ajmg.a.62903
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- Publication type:
- Article
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 642, doi. 10.1002/ajmg.a.62559
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- Publication type:
- Article
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1195, doi. 10.1002/ajmg.a.62067
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- Publication type:
- Article
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2417, doi. 10.1002/ajmg.a.61785
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- Publication type:
- Article
Transcriptome Changes in Three Brain Regions during Chronic Lithium Administration in the Rat Models of Mania and Depression.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1148, doi. 10.3390/ijms22031148
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- Publication type:
- Article
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Abstract