Results 211 to 220 of about 510,747 (317)

Retinal Vessel Segmentation: A Comprehensive Review From Classical Methods to Deep Learning Advances (1982–2025)

open access: yesAdvanced Intelligent Systems, EarlyView.
Four decades of retinal vessel segmentation research (1982–2025) are synthesized, spanning classical image processing, machine learning, and deep learning paradigms. A meta‐analysis of 428 studies establishes a unified taxonomy and highlights performance trends, generalization capabilities, and clinical relevance.
Avinash Bansal   +6 more
wiley   +1 more source

Better 10‐Year Cerebrovascular Outcome After Transplant Than on Standard‐Care in Sickle Cell Anemia: DREPAGREFFE Trial

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Management of cerebral vasculopathy in sickle cell anemia (SCA) includes standard‐care, that is, chronic transfusion (CT) or hydroxyurea, and hematopoietic cell transplantation (HCT). DREPAGREFFE‐1 (December 2010/June 2013), a French multicenter trial, was the first prospective trial comparing standard‐care to match sibling donor (MSD)‐HCT in ...
Francoise Bernaudin   +40 more
wiley   +1 more source

Global Study on Newborn HOspitalization and Parental Experiences (HOPE): rationale and design of a multinational cross-sectional mixed-methods online survey. [PDF]

open access: yesBMJ Paediatr Open
Hoffmann J   +7 more
europepmc   +1 more source

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio   +19 more
wiley   +1 more source

Genomic Newborn Screening: Verdict From an Australian Citizens' Jury. [PDF]

open access: yesMed J Aust
Aquino YSJ   +19 more
europepmc   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde   +12 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier   +2 more
wiley   +1 more source

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