Results 231 to 240 of about 227,823 (308)

A multi-layer annotated corpus for information extraction in Russian clinical NLP. [PDF]

Front Artif Intell
Sultangaziyeva A, Sambetbayeva M, Mukazhanov N, Abdygalym B, Serikbayeva S.   +4 more
europepmc   +1 more source

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly

Journal of Ultrasound in Medicine, EarlyView.
Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du, Rong Zhu, HongJia Li, Ying Zhao, LinLin Wu, Hong Pan, YiNan Ma, XinLin Hou, JunYa Chen   +8 more
wiley   +1 more source

Correction: cfTrack: A Method of Exome-Wide Mutation Analysis of Cell-free DNA to Simultaneously Monitor the Full Spectrum of Cancer Treatment Outcomes Including MRD, Recurrence, and Evolution. [PDF]

Clin Cancer Res
Li S, Zeng W, Ni X, Zhou Y, Stackpole ML, Noor ZS, Yuan Z, Neal A, Memarzadeh S, Garon EB, Dubinett SM, Li W, Zhou XJ.   +12 more
europepmc   +1 more source

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +1 more source

Evaluation of severe male infertility. [PDF]

F S Rep
Schlegel PN.
europepmc   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Genetic insights: proband- only exome sequencing in pediatric neurological disorders. [PDF]

J Community Genet
Uppal K, Kaushik H, Gupta MB, Polipalli SK, Kumar S, Kapoor S.   +5 more
europepmc   +1 more source

Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients. [PDF]

Transl Pediatr
Onorato AC, Gosselin R, Chaudhari BP, Alvarado C, White P, Garg V, Bigelow AM.   +6 more
europepmc   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Protein-truncating variants in APBA1 in minors with severe, early-onset obesity: implications for genetic testing. [PDF]

Mol Cell Pediatr
Lerner J, Moawia A, Zorn S, Kloker S, Klehr-Martinelli M, Winner K, Penfold D, Völkl TMK, Krausnick M, Siebert R, Wabitsch M.   +10 more
europepmc   +1 more source