Results 221 to 230 of about 170,129 (306)

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

open access: yesClinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis   +9 more
wiley   +1 more source

Advances and Challenges in the Multidisciplinary Treatment of Retroperitoneal Infantile Fibrosarcoma in Early Life

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Background and Aims Retroperitoneal Infantile Fibrosarcoma (RIFS) is a rare, locally aggressive pediatric soft tissue tumor. Its retroperitoneal location poses challenges due to proximity and potential invasion of critical structures such as the inferior vena cava (IVC).
Gaia Brunetti   +8 more
wiley   +1 more source

Pulmonary Sequestration in the Guise of Pneumonia: Clues to a Hidden Entity. [PDF]

open access: yesCureus
Garg S   +6 more
europepmc   +1 more source

Techniques of liver transplantation [PDF]

open access: yes, 2000
Casavilla, A, Gordon, RD, Starzl, TE
core  

Loncastuximab Tesirine in Relapsed/Refractory Diffuse Large B‐Cell Lymphoma: Evidence and Practical Guidance From Italian Clinical Experience

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Patients with relapsed/refractory (R/R) diffuse large B‐cell lymphoma (DLBCL) who progress to the third‐line setting face a lack of standardized treatment, despite the presence of multiple available therapies. In this context, antibody–drug conjugates represent a relatively new class of anticancer agents; among them, loncastuximab tesirine is ...
Francesca Bonello   +7 more
wiley   +1 more source

Open repair and subsequent stenting to treat median arcuate ligament syndrome secondary to Roux-en-Y gastric bypass. [PDF]

open access: yesJ Vasc Surg Cases Innov Tech
Oh A   +5 more
europepmc   +1 more source

Primary cardiac T‐cell rich large B‐cell lymphoma causing aortic stenosis with metastasis in a Warmblood

open access: yesEquine Veterinary Education, EarlyView.
Summary An 18‐year‐old Warmblood mare was presented to the Royal Veterinary College Equine Referral Hospital for investigation of progressive periocular and facial swelling, weight loss and tachycardia. Physical examination additionally identified bilateral pansystolic (grade 5/6 basilar left‐sided, 2/6 right‐sided), cardiac murmurs, submandibular ...
S. E. Talbot   +4 more
wiley   +1 more source

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