Results 221 to 230 of about 84,696 (298)

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

open access: yesPediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan   +6 more
wiley   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

open access: yesArthritis Care &Research, Volume 78, Issue 7, Page 860-874, July 2026.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo   +88 more
wiley   +1 more source

How I do it: Nerve-sparing laparoscopic low anterior resection: Step by step nerve identification and preservation. [PDF]

open access: yesTurk J Surg
Batun KD   +5 more
europepmc   +1 more source

Serum PFAS in Aircraft Rescue and Firefighting (ARFF) Firefighters From Six U.S. Airport Fire Departments

open access: yesAmerican Journal of Industrial Medicine, Volume 69, Issue 7, Page 512-524, July 2026.
ABSTRACT Introduction Use of aqueous film‐forming foam (AFFF) is a source of exposure to per‐ and polyfluoroalkyl substances (PFAS) for firefighters working in aircraft rescue and firefighting (ARFF) settings. However, data characterizing the association between serum PFAS concentrations and exposure risk factors for ARFF firefighters are limited ...
Miriam M. Calkins   +19 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

A contribution to the anatomy of two rare cetacean species: The hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica)

open access: yesThe Anatomical Record, Volume 309, Issue 7, Page 1797-1820, July 2026.
Abstract The anatomical description of the hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica) remains largely unexplored, due to limited specimen availability and preservation challenges. This study employed digital imaging techniques, conventional histology, and computed tomography to provide visualization of
Jean‐Marie Graïc   +26 more
wiley   +1 more source

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