Results 221 to 230 of about 245,076 (385)

Anterior Cleft Palate due to Cbfb deficiency and its rescue by folic acid [PDF]

open access: green, 2019
Safiye E. Sarper   +8 more
openalex   +1 more source

Pour Water on Burns - Prof. M.H. Keswani

open access: yesIndian Journal of Plastic Surgery, 2011
H. S. Adenwalla
doaj   +1 more source

Challenges in diagnosing diaphragmatic eventration in a neonate with Fryns syndrome and cleft palate. [PDF]

open access: yesRadiol Case Rep
Imdadoglu T   +6 more
europepmc   +1 more source

Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. [PDF]

open access: yes, 2007
D'ARMIENTO, MARIA   +6 more
core   +1 more source

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

open access: yesPrenatal 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   +7 more
wiley   +1 more source

Current insights on the genetics and mechanisms of MSX1-associated cleft palate. [PDF]

open access: yesFront Dent Med
Myo AC   +4 more
europepmc   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang   +21 more
wiley   +1 more source

Deep Learning for Endoscopic Classification of Adenoid Hypertrophy

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective Endoscopy is a convenient and widely used method to evaluate adenoid size, but the subjectivity of its image diagnosis can result in over‐ or underestimation. To create a new assessment strategy for adenoid hypertrophy, we developed a reliable method for automated classification using a deep learning algorithm with nasal endoscopic ...
Xuan‐Sheng Wang   +9 more
wiley   +1 more source

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