Results 71 to 80 of about 1,221,013 (139)

Generation of a human SLC12A3 knock-in human induced pluripotent stem cell line (CMCi014-A-82) using CRISPR-Cas9 system

open access: yes
Gitelman’s disease is caused by a genetic mutation in the solute carrier family 12 member 3 (SLC12A3) gene, which encodes the sodium chloride cotransporter.
Byung Ha Chung   +8 more
core   +1 more source

Aortic arch tortuosity with PHACE syndrome : a rare case scenario [PDF]

open access: yes, 2016
PHACE syndrome is a rare neurocutaneous disorder characterised by an association of infantile haemangiomas with structural anomalies of brain, cerebral vasculature, eye, aorta and chest wall.1 Coarctation of aorta (COA) is most the common cardiac anomaly
Baidwan, A.   +5 more
core  

Mediterranean diet and the metabolic syndrome [PDF]

open access: yes, 2009
Mediterranean diet and the metabolic syndrome Background: The metabolic syndrome refers to a clustering of risk factors including abdominal obesity, hyperglycaemia, low HDL-cholesterol, hypertriglyceridaemia, and hypertension and it is a risk factor ...
Bos, M.B.
core  

Fetal alcohol syndrome; guidelines for referral and diagnosis [PDF]

open access: yes
National Center on Birth Defects and Developmental Disabilities in coordination with National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect (American Academy of Pediatrics, American College of Obstetricians and Gynecologists, March of ...

core  

Son Dönem Böbrek Yetmezliğinin Nadir Bir Nedeni: Sarkoidozis

open access: yes
Introduction: Sarcoidosis is a systemic disease of unknown aetiology characterized by non-caseous granulomas. In our case, the patient experienced renal failure attributed to sarcoidosis, leading to her enrolment in a ...
Erkoca, Aybike   +9 more
core   +1 more source

Beckwith-Wiedemann Syndrome

open access: yes, 2019
This chapter provides a thorough overview of Beckwith-Wiedemann syndrome, which is considered to be the most common of the overgrowth syndromes and imprinting disorders.
Flavia Cerrato   +9 more
core   +1 more source

Correlation of total cholesterol and protein in urine in patients with the nephrotic syndrome [PDF]

open access: yes, 1980
The excretion of protein and cholesterol in 24 h urine was measured in 42 patients with the nephrotic syndrome.
Wallner, J.   +2 more
core   +1 more source

Case Reports Kabuki Syndrome in a Sri Lankan baby

open access: yes, 2014
Kabuki syndrome (KS), also known as Kabuki ...
Kms Or Niikawa Kuroki Syndrome
core  

New SLC12A3 disease causative mutation of Gitelman's syndrome. [PDF]

open access: yesWorld J Nephrol, 2016
Grillone T   +8 more
europepmc   +1 more source

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