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Clinical Genetics
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December 5, 2024
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder
Periyasamy Radhakrishnan, Neha Quadri, Florian Erger, et al.
Kidney International Reports
|
October 21, 2024
Erratum to "Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition" [<i>Kidney International Reports</i> Volume 9, Issue 4, April 2024, Pages 919-928]
Jessica K Kaufeld, Lucas Kühne, Ulf Schönermarck, et al.
Kidney International Reports
|
July 31, 2024
Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage
Jessica K Kaufeld, Ulf Schönermarck, Lucas Kühne, et al.
Kidney International Reports
|
March 20, 2023
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care
Christoph Heinrich Lindemann, Andrea Wenzel, Florian Erger, et al.
Orphanet Journal of Rare Diseases
|
October 20, 2020
The adult phenotype of Schaaf-Yang syndrome
Felix Marbach, Magdeldin Elgizouli, Megan Rech, et al.
Kidney International Reports
|
May 20, 2024
Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition
Jessica K Kaufeld, Lucas Kühne, Ulf Schönermarck, et al.
The Journal of Molecular Diagnostics : JMD
|
April 10, 2022
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing
Nikolai Tschernoster, Florian Erger, Patrick R Walsh, et al.
Kidney International Reports
|
May 20, 2021
Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling
Francesca Fabretti, Nikolai Tschernoster, Florian Erger, et al.
Kidney International
|
November 6, 2019
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up
Sander F Garrelfs, Gill Rumsby, Hessel Peters-Sengers, et al.
Journal of Medical Genetics
|
April 9, 2025
<i>LSM1</i> c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort
Sivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 43) with videos related to
Sort By:
Page
of 5
Clinical Genetics
|
December 5, 2024
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder
Periyasamy Radhakrishnan, Neha Quadri, Florian Erger, et al.
Kidney International Reports
|
October 21, 2024
Erratum to "Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition" [<i>Kidney International Reports</i> Volume 9, Issue 4, April 2024, Pages 919-928]
Jessica K Kaufeld, Lucas Kühne, Ulf Schönermarck, et al.
Kidney International Reports
|
July 31, 2024
Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage
Jessica K Kaufeld, Ulf Schönermarck, Lucas Kühne, et al.
Kidney International Reports
|
March 20, 2023
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care
Christoph Heinrich Lindemann, Andrea Wenzel, Florian Erger, et al.
Orphanet Journal of Rare Diseases
|
October 20, 2020
The adult phenotype of Schaaf-Yang syndrome
Felix Marbach, Magdeldin Elgizouli, Megan Rech, et al.
Kidney International Reports
|
May 20, 2024
Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition
Jessica K Kaufeld, Lucas Kühne, Ulf Schönermarck, et al.
The Journal of Molecular Diagnostics : JMD
|
April 10, 2022
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing
Nikolai Tschernoster, Florian Erger, Patrick R Walsh, et al.
Kidney International Reports
|
May 20, 2021
Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling
Francesca Fabretti, Nikolai Tschernoster, Florian Erger, et al.
Kidney International
|
November 6, 2019
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up
Sander F Garrelfs, Gill Rumsby, Hessel Peters-Sengers, et al.
Journal of Medical Genetics
|
April 9, 2025
<i>LSM1</i> c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort
Sivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, et al.
Page
of 5