Results 231 to 240 of about 32,466 (303)

Clinically Relevant Bleeding in Individuals With Cancer: Insights From a Nationwide Cohort Study

American Journal of Hematology, EarlyView.
ABSTRACT Cancer care is often complicated by coagulopathy leading to thrombosis and bleeding. While venous thromboembolism (VTE) has been extensively studied, bleeding remains an underestimated threat. To address this knowledge gap, we leveraged the Epic Cosmos database to determine the impact of cancer‐associated clinically relevant bleeding (CRB) in ...
Ming Y. Lim, Radhika Gangaraju, Omid Jafari, Zihan Yang, Joyce W. T. Tiong, Elizabeth C. L. Chiang, Shengling Ma, Jun Y. Jiang, Justine Ryu, Barbara D. Lam, Mrinal Ranjan, Ang Li   +11 more
wiley   +1 more source

From bedside to bench: A multimodal approach uncovering the molecular basis of the <i>MYBPC1</i>-linked Myotrem myopathy. [PDF]

Proc Natl Acad Sci U S A
Iyer AS, Wright NT, Cook ME, Takagi Y, Johnson BA, Biancalana V, Massier M, Spodenkiewicz M, Poirsier C, Vallecillo B, Constant Boyer F, Pineau C, Hensley L, Sellers JR, Varney KM, Weber DJ, Kontrogianni-Konstantopoulos A.   +16 more
europepmc   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Correction to "ARF induction in response to DNA strand breaks is regulated by PARP1". [PDF]

Nucleic Acids Res
europepmc   +1 more source

A privacy preserving optimized intelligent security framework for smart homes using zero trust architecture and explainability. [PDF]

Sci Rep
Gupta A, Gupta S, Sharma S, Singh J, Ali F, Kwak D.   +5 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Jaw relation recording using nick and notch technique with intraoral gothic arch tracing in completely edentulous patients: A clinical study. [PDF]

Bioinformation
Singh AK, Grover SS, Rai N, Gupta V, Sharma C, Gupta SP, Singh S.   +6 more
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Correction to 'Nuclear ubiquitination by FBXL5 modulates Snail1 DNA binding and stability'. [PDF]

Nucleic Acids Res
europepmc   +1 more source

FLT3 Testing and Guideline Concordance in Acute Myeloid Leukemia Across a Community Health System. [PDF]

Cureus
Yawn C, Van Ravenswaay L, Nisly S, Reeves D.   +3 more
europepmc   +1 more source