Found: 104
Select item for more details and to access through your institution.
Explaining Alport syndrome—lessons from the adult nephrology clinic.
- Published in:
- Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00036-z
- By:
- Publication type:
- Article
Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.
- Published in:
- Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00031-4
- By:
- Publication type:
- Article
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.
- Published in:
- Annals of Human Genetics, 2024, v. 88, n. 1, p. 76, doi. 10.1111/ahg.12508
- By:
- Publication type:
- Article
Routine Urinary Biochemistry Does Not Accurately Predict Stone Type Nor Recurrence in Kidney Stone Formers: A Multicentre, Multimodel, Externally Validated Machine-Learning Study.
- Published in:
- Journal of Endourology, 2023, v. 37, n. 12, p. 1295, doi. 10.1089/end.2023.0451
- By:
- Publication type:
- Article
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
- Published in:
- Nephrology Dialysis Transplantation, 2023, v. 38, n. 10, p. 2120, doi. 10.1093/ndt/gfaa243
- By:
- Publication type:
- Article
Many lessons still to learn about autosomal dominant polycystic kidney disease.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00017-8
- By:
- Publication type:
- Article
Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 9, p. 1, doi. 10.1002/mgg3.2201
- By:
- Publication type:
- Article
Sphingosine phosphate lyase insufficiency syndrome: a systematic review.
- Published in:
- World Journal of Pediatrics, 2023, v. 19, n. 5, p. 425, doi. 10.1007/s12519-022-00615-4
- By:
- Publication type:
- Article
Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 330, doi. 10.1111/cge.14251
- By:
- Publication type:
- Article
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.
- Published in:
- Nephrology Dialysis Transplantation, 2023, v. 38, n. 2, p. 271, doi. 10.1093/ndt/gfab268
- By:
- Publication type:
- Article
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. e24, doi. 10.1002/humu.24480
- By:
- Publication type:
- Article
Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101687
- By:
- Publication type:
- Article
Outcomes from the Northeast England cohort of autosomal dominant polycystic kidney disease (ADPKD) patients on tolvaptan.
- Published in:
- Frontiers in Nephrology, 2022, v. 2, p. 1, doi. 10.3389/fneph.2022.984165
- By:
- Publication type:
- Article
The Giant Organ of Breslau.
- Published in:
- Organists' Review, 2022, p. 19
- By:
- Publication type:
- Article
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 3, p. 145, doi. 10.1111/ahg.12454
- By:
- Publication type:
- Article
Cutaneous manifestations of acute kidney injury.
- Published in:
- Clinical Kidney Journal, 2022, v. 15, n. 5, p. 855, doi. 10.1093/ckj/sfab255
- By:
- Publication type:
- Article
update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 5, p. 825, doi. 10.1093/ndt/gfab312
- By:
- Publication type:
- Article
Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 109, doi. 10.1002/ajmg.c.31964
- By:
- Publication type:
- Article
Nicolaus Bruhns (1665-1697) A Shadowy Genius?
- Published in:
- Organists' Review, 2022, p. 23
- By:
- Publication type:
- Article
UMOD and you! Explaining a rare disease diagnosis.
- Published in:
- Journal of Rare Diseases, 2022, v. 1, n. 1, p. 1, doi. 10.1007/s44162-022-00005-4
- By:
- Publication type:
- Article
Оновлення щодо застосування толваптану для лікування автосомно-домінантного полікістозу нирок (АДПН): консенсусна заява від імені Робочої групи ERA зі спадкових захворювань нирок, Європейської довідкової мережі з рідкісних захворювань нирок та Polycystic Kidney Disease International.
- Published in:
- Pocki, 2022, v. 11, n. 1, p. 37, doi. 10.22141/2307-1257.11.1.2022.357
- By:
- Publication type:
- Article
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1603
- By:
- Publication type:
- Article
Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.791495
- By:
- Publication type:
- Article
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1221, doi. 10.1002/humu.24251
- By:
- Publication type:
- Article
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab163
- By:
- Publication type:
- Article
Molecular genetics of renal ciliopathies.
- Published in:
- Biochemical Society Transactions, 2021, v. 49, n. 3, p. 1205, doi. 10.1042/BST20200791
- By:
- Publication type:
- Article
Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.
- Published in:
- Journal of Nephrology (JNonline), 2021, v. 34, n. 3, p. 893, doi. 10.1007/s40620-020-00795-0
- By:
- Publication type:
- Article
RIPK3 Contributes to Lyso-Gb3-Induced Podocyte Death.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 2, p. 245, doi. 10.3390/cells10020245
- By:
- Publication type:
- Article
Novel pathogenic MAPKBP1 variant in a family with nephronophthisis.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 2, p. 728, doi. 10.1093/ckj/sfaa090
- By:
- Publication type:
- Article
Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.
- Published in:
- Genes, 2020, v. 11, n. 9, p. 967, doi. 10.3390/genes11090967
- By:
- Publication type:
- Article
Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
- Published in:
- Urolithiasis, 2020, v. 48, n. 4, p. 337, doi. 10.1007/s00240-020-01187-6
- By:
- Publication type:
- Article
SGLT2 inhibitors - a potential treatment for Alport syndrome.
- Published in:
- Clinical Science, 2020, v. 134, n. 4, p. 379, doi. 10.1042/CS20191276
- By:
- Publication type:
- Article
The challenges of diagnosis and management of Gitelman syndrome.
- Published in:
- Clinical Endocrinology, 2020, v. 92, n. 1, p. 3, doi. 10.1111/cen.14104
- By:
- Publication type:
- Article
Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 369, doi. 10.3390/ijms21010369
- By:
- Publication type:
- Article
The Molecular Genetics of Gordon Syndrome.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 986, doi. 10.3390/genes10120986
- By:
- Publication type:
- Article
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.
- Published in:
- Urolithiasis, 2019, v. 47, n. 6, p. 511, doi. 10.1007/s00240-019-01116-2
- By:
- Publication type:
- Article
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3766, doi. 10.1093/hmg/ddz202
- By:
- Publication type:
- Article
Post-transplant diabetes.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 9, p. 1615, doi. 10.1007/s00467-019-04267-x
- By:
- Publication type:
- Article
Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report.
- Published in:
- Kidney & Blood Pressure Research, 2019, v. 44, n. 4, p. 870, doi. 10.1159/000500922
- By:
- Publication type:
- Article
A preliminary survey of practice patterns across several European kidney stone centers and a call for action in developing shared practice.
- Published in:
- Urolithiasis, 2019, v. 47, n. 3, p. 219, doi. 10.1007/s00240-019-01119-z
- By:
- Publication type:
- Article
Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).
- Published in:
- 2019
- By:
- Publication type:
- journal article
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 211, doi. 10.1007/s00439-019-01978-x
- By:
- Publication type:
- Article
Precision medicine in renal stone-formers.
- Published in:
- Urolithiasis, 2019, v. 47, n. 1, p. 99, doi. 10.1007/s00240-018-1091-5
- By:
- Publication type:
- Article
CYP24A1 mutations and hypervitaminosis D.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
- Published in:
- Physiological Reports, 2018, v. 6, n. 12, p. 1, doi. 10.14814/phy2.13715
- By:
- Publication type:
- Article
Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan.
- Published in:
- Clinical Kidney Journal, 2018, v. 11, n. 1, p. 62, doi. 10.1093/ckj/sfx071
- By:
- Publication type:
- Article
BRIEFE UND TAGEBUCHBLÄTTER VON GRÄFIN C<sup>***</sup>: CLOTILDE VON STOCKHAUSEN'S DIARY COMES BACK TO LIGHT.
- Published in:
- German Life & Letters, 2018, v. 71, n. 1, p. 4, doi. 10.1111/glal.12180
- By:
- Publication type:
- Article