Results 181 to 190 of about 191,659 (311)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Salvaging unexpected vascular challenges in renal transplant: two case reports. [PDF]

open access: yesInt J Surg Case Rep
Randriantsalama M   +4 more
europepmc   +1 more source

Clinical assessment of Renal Ischaemic Injury and the Role of Cryopreservation; Peritoneal Cooling an Non-Heart-Beating Donation and Topical Cooling for Laparoscopic Surgery

open access: yes
The project aims focussed on three main areas of study; ischaemic injury assessment, laparoscopic renal cryopreservation and peritoneal cooling for non-heart-beating organ donation.
Navarro, Alex
core  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Case Report: Successful treatment of <i>Bartonella henselae</i>-associated crescentic glomerulonephritis in renal transplant recipient. [PDF]

open access: yesFront Med (Lausanne)
Pierson S   +9 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Comparative analysis of excessive daytime sleepiness and sleep apnea symptoms in renal transplant recipients and a historical dialysis cohort. [PDF]

open access: yesJ Taibah Univ Med Sci
Alharbi T   +9 more
europepmc   +1 more source

Sickle Cell Disease and Kidney Injury: Circulating Uromodulin Allows Early Tissue Specific Diagnosis and Monitoring of Treatment

open access: yes
American Journal of Hematology, EarlyView.
Ferras Alashkar   +10 more
wiley   +1 more source

Home - About - Disclaimer - Privacy