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Carsten Bergmann

Showing results (51-60 of 228) with videos related to

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Frontiers in Genetics|June 4, 2019
Deleterious Impact of a Novel <i>CFH</i> Splice Site Variant in Atypical Hemolytic Uremic SyndromeRia Schönauer, Anna Seidel, Maik Grohmann, et al.
The British Journal of Ophthalmology|June 11, 2015
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutationArif O Khan, Saba Al Rashaed, Christine Neuhaus, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 8, 2021
Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021Rupesh Raina, Ronith Chakraborty, Sidharth K Sethi, et al.
Klinische Padiatrie|May 8, 2019
ZFP57-related Transient Neonatal Diabetes Responsive to Oral Sulfonylurea TreatmentChristina Reinauer, Carsten Bergmann, Annemarie Jonasson, et al.
Prilozi (Makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki)|March 14, 2019
A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)Aleksandra Janchevska, Velibor Tasic, Nevenka Laban, et al.
Human Molecular Genetics|February 9, 2022
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathiesDaniel Epting, Eva Decker, Elisabeth Ott, et al.
The British Journal of Ophthalmology|July 6, 2014
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delayArif O Khan, Saleh Al-Mesfer, Shahira Al-Turkmani, et al.
Annals of Human Genetics|December 10, 2021
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variantsMaha Mohamed, James Tellez, Carsten Bergmann, et al.
Pediatric Nephrology (Berlin, Germany)|April 18, 2018
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1Anna Eichinger, Sabine Ponsel, Carsten Bergmann, et al.
Kidney & Blood Pressure Research|March 21, 2024
Nephrolithiasis Associated with Nephrocalcinosis Is Primarily Composed of Carbonate ApatiteTeresa Antonia Kiener, Elena Moré, Michael Franzen, et al.
Pageof 23

Showing results (51-60 of 228) with videos related to

Sort By:
Pageof 23
Frontiers in Genetics|June 4, 2019
Deleterious Impact of a Novel <i>CFH</i> Splice Site Variant in Atypical Hemolytic Uremic SyndromeRia Schönauer, Anna Seidel, Maik Grohmann, et al.
The British Journal of Ophthalmology|June 11, 2015
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutationArif O Khan, Saba Al Rashaed, Christine Neuhaus, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 8, 2021
Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021Rupesh Raina, Ronith Chakraborty, Sidharth K Sethi, et al.
Klinische Padiatrie|May 8, 2019
ZFP57-related Transient Neonatal Diabetes Responsive to Oral Sulfonylurea TreatmentChristina Reinauer, Carsten Bergmann, Annemarie Jonasson, et al.
Prilozi (Makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki)|March 14, 2019
A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)Aleksandra Janchevska, Velibor Tasic, Nevenka Laban, et al.
Human Molecular Genetics|February 9, 2022
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathiesDaniel Epting, Eva Decker, Elisabeth Ott, et al.
The British Journal of Ophthalmology|July 6, 2014
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delayArif O Khan, Saleh Al-Mesfer, Shahira Al-Turkmani, et al.
Annals of Human Genetics|December 10, 2021
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variantsMaha Mohamed, James Tellez, Carsten Bergmann, et al.
Pediatric Nephrology (Berlin, Germany)|April 18, 2018
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1Anna Eichinger, Sabine Ponsel, Carsten Bergmann, et al.
Kidney & Blood Pressure Research|March 21, 2024
Nephrolithiasis Associated with Nephrocalcinosis Is Primarily Composed of Carbonate ApatiteTeresa Antonia Kiener, Elena Moré, Michael Franzen, et al.
Pageof 23