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1.
Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.
J Am Soc Nephrol
; 34(11): 1875-1888, 2023 11 01.
Article
in English
| MEDLINE | ID: mdl-37678265
2.
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
J Am Soc Nephrol
; 34(2): 333-345, 2023 02 01.
Article
in English
| MEDLINE | ID: mdl-36302598
3.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
J Am Soc Nephrol
; 33(2): 305-325, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34607911
4.
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.
Article
in English
| MEDLINE | ID: mdl-33811157
5.
Functional tests to guide management in an adult with loss of function of type-1 angiotensin II receptor.
Pediatr Nephrol
; 36(9): 2731-2737, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33768328
6.
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
J Am Soc Nephrol
; 28(8): 2529-2539, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28373276
7.
Genetic causes of hypomagnesemia, a clinical overview.
Pediatr Nephrol
; 32(7): 1123-1135, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-27234911
8.
Neurosurgery summer event for students by students: sharing interests.
Br J Neurosurg
; 33(3): 341-342, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30693791
9.
Higher SBP in female patients with mitochondrial disease.
J Hypertens
; 40(5): 940-946, 2022 05 01.
Article
in English
| MEDLINE | ID: mdl-35132040
10.
Genetics of renovascular hypertension in children.
J Hypertens
; 38(10): 1964-1970, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32890272
11.
Reply to 'Blood pressure regulation is multifactorial in mitochondrial disorders'.
J Hypertens
; 40(10): 2082, 2022 10 01.
Article
in English
| MEDLINE | ID: mdl-36052530
12.
P2X6 Knockout Mice Exhibit Normal Electrolyte Homeostasis.
PLoS One
; 11(6): e0156803, 2016.
Article
in English
| MEDLINE | ID: mdl-27254077
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