Results 201 to 210 of about 373,896 (335)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Correction of whistling deformity in repaired cleft lip

, 1977
Tohru Tanaka, Yoshio Ogura, Hiroyuki Kishimoto, Wataru Tani, Kazuko Yoshida, Nozomu Kurozumi   +5 more
openalex   +2 more sources

On cleft lips and cleft palates [PDF]

Journal of Dentofacial Anomalies and Orthodontics, 2008
openaire   +2 more sources

Epidemiologic trends of cleft lip and/or palate in Switzerland. [PDF]

BMC Oral Health
Beyeler J, Lauener A, Katsaros C, La Scala GC, Degen M.   +4 more
europepmc   +1 more source

A method of reconstruction of the sublabial sulcus and the vermilion tubercle in the secondary repair of the bilateral cleft lip deformity

, 1978
Y HATA, S OHMORI
openalex   +1 more source

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients

Pediatric Investigation, EarlyView.
NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li, Ming Cheng, Min Liu, Wenjing Li, Yuchuan Li, Bingyan Cao, Liya Wei, Yuan Ding, Xi Meng, Lele Li, Chunxiu Gong   +10 more
wiley   +1 more source

Application of Digital Technology in Prosthetic Treatment for a Cleft Lip and Palate Patient: A Novel Dental Technique. [PDF]

Cureus
Hattori M, Yamatani Y, Murase M, Haraguchi M, Sumita Y, Wakabayashi N.   +5 more
europepmc   +1 more source

Sample Preparation for Multi‐Omics Analysis: Considerations and Guidance for Identifying the Ideal Workflow

PROTEOMICS, EarlyView.
ABSTRACT Advances in methodologies and technologies over the past decade have led to an unprecedented depth of analysis of a cell's biomolecules, with entire genomes able to be sequenced in hours and up to 10,000 transcripts or ORF products (proteins) able to be quantified from a single cell.
Breyer Woodland, Luke A. Farrell, Lana Brockbals, Maria Rezcallah, Aiden Brennan, Emily J. Sunnucks, Sam T. Gould, Aleksandra M. Stanczak, Matthew B. O'Rourke, Matthew P. Padula   +9 more
wiley   +1 more source