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A new era of treatment for primary hyperoxaluria type 1

Nature reviews. Nephrology, 2021-09, Vol.17 (9), p.573-574

2021

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cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA

Genome medicine, 2020-06, Vol.12 (1), p.54-54, Article 54

2020

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Carrier testing for autosomal recessive disorders: a look at current practice in Germany

Medizinische Genetik, 2021-04, Vol.33 (1), p.13-19

2021

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The adult phenotype of Schaaf-Yang syndrome

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.1-294, Article 294

2020

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Monogene Formen der arteriellen Hypertonie

Medizinische Genetik, 2018, Vol.30 (4), p.391-399

Erger, Florian

2018

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Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease

Frontiers in pediatrics, 2020-03, Vol.8, p.42

2020

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Monogene Formen der arteriellen Hypertonie

Medizinische Genetik, 2018-12, Vol.30 (4), p.391-399

Erger, Florian

2018

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Disconnected Cardiac Autonomic Nerves in Genetic Ganglionic Acetylcholine Receptor Alpha-3 Subunit Deficiency

Hypertension (Dallas, Tex. 1979), 2023-08, Vol.80 (8), p.e137-e139

2023

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Cosmc regulates O-glycan extension in murine hepatocytes

Glycobiology (Oxford), 2024-08, Vol.34 (10)

2024

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Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up

Kidney international, 2019-12, Vol.96 (6), p.1389-1399

2019

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Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach

Molecular and cellular probes, 2019-06, Vol.45, p.84-88

2019

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Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

European journal of human genetics : EJHG, 2018-09, Vol.26 (9), p.1392-1395

2018

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Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end stage renal disease of unknown origin - a single center analysis

Nephrology, dialysis, transplantation, 2022-09, Vol.37 (10), p.1895-1905

2022

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The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

American journal of human genetics, 2019-04, Vol.104 (4), p.749-757

2019

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Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases

Archives of gynecology and obstetrics, 2017-04, Vol.295 (4), p.897-906

2017

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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

American journal of human genetics, 2019-08, Vol.105 (2), p.384-394

2019

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Germline C1GALT1C1 mutation causes a multisystem chaperonopathy

Proceedings of the National Academy of Sciences - PNAS, 2023-05, Vol.120 (22), p.e2211087120-e2211087120

2023

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Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing

The Journal of molecular diagnostics : JMD, 2022-06, Vol.24 (6), p.619-631

2022

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A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2132-2138

2017

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Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies

Clinical nephrology, 2020-10, Vol.94 (4), p.197-206

2020

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Erratum to “Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition” [Kidney International Reports Volume 9, Issue 4, April 2024, Pages 919-928]

Kidney international reports, 2024-08

2024

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Copeptin in autosomal dominant polycystic kidney disease: real-world experiences from a large prospective cohort study

Clinical kidney journal, 2023-11, Vol.16 (11), p.2194-2204

2023

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Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland

Polskie archiwum medycyny wewne̦trznej, 2020-12, Vol.130 (12), p.1053-1063

2020

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Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage

Kidney international reports, 2024-07, Vol.9 (7), p.2307-2308

2024

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Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies

Kidney international reports, 2023-07, Vol.8 (7), p.1449-1454

2023

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A new era of treatment for primary hyperoxaluria type 1

cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA

Carrier testing for autosomal recessive disorders: a look at current practice in Germany

The adult phenotype of Schaaf-Yang syndrome

Monogene Formen der arteriellen Hypertonie

Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease

Monogene Formen der arteriellen Hypertonie

Disconnected Cardiac Autonomic Nerves in Genetic Ganglionic Acetylcholine Receptor Alpha-3 Subunit Deficiency

Cosmc regulates O-glycan extension in murine hepatocytes

Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up

Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end stage renal disease of unknown origin - a single center analysis

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy

Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing

A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome

Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies

Erratum to “Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition” [Kidney International Reports Volume 9, Issue 4, April 2024, Pages 919-928]

Copeptin in autosomal dominant polycystic kidney disease: real-world experiences from a large prospective cohort study

Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland

Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage

Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies

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