Detalhe da pesquisa
1.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet
; 109(5): 928-943, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35397207
2.
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
J Am Soc Nephrol
; 34(2): 333-345, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302598
3.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
J Am Soc Nephrol
; 33(2): 305-325, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34607911
4.
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Nephrol Dial Transplant
; 37(12): 2474-2486, 2022 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137195
5.
Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies.
J Med Genet
; 58(9): 629-636, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917769
6.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
J Med Genet
; 58(7): 453-464, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32631816
7.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
J Am Soc Nephrol
; 32(11): 2885-2899, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34607910
8.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
J Am Soc Nephrol
; 32(6): 1498-1512, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811157
9.
Contralateral inhibition of distortion product otoacoustic emissions in young noise-exposed Veterans.
J Acoust Soc Am
; 152(6): 3562, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586855
10.
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Hum Mutat
; 42(4): 473-486, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600043
11.
First Reported Nosocomial Outbreak of Severe Acute Respiratory Syndrome Coronavirus 2 in a Pediatric Dialysis Unit.
Clin Infect Dis
; 72(2): 265-270, 2021 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33501962
12.
Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.
Kidney Int
; 99(2): 324-335, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33509356
13.
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Am J Hum Genet
; 103(5): 808-816, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388404
14.
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
Clin Genet
; 99(1): 143-156, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33040356
15.
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.
Nephrol Dial Transplant
; 36(9): 1585-1596, 2021 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33914889
16.
Distribution and management of the pediatric refugee population with renal replacement: A German pediatric cohort.
Pediatr Nephrol
; 36(2): 271-277, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31897711
17.
Endurance-oriented training program with children and adolescents on maintenance hemodialysis to enhance dialysis efficacy-DiaSport.
Pediatr Nephrol
; 36(12): 3923-3932, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117528
18.
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Nephrol Dial Transplant
; 2020 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33367818
19.
Twelve-month outcome in juvenile proliferative lupus nephritis: results of the German registry study.
Pediatr Nephrol
; 35(7): 1235-1246, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32193650
20.
Long-Term Variability of Distortion-Product Otoacoustic Emissions in Infants and Children and Its Relation to Pediatric Ototoxicity Monitoring.
Ear Hear
; 41(2): 239-253, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-29280917