Results 141 to 150 of about 346,412 (355)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
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 +18 more
wiley +1 more source
Exhaled breath analysis using a novel electronic nose for different respiratory disease entities with gas chromatography mass spectrometry validation [PDF]
Kai‐Lun Yu +8 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Discussion on “the Influence of Diseases and Abnormalities of the Nose on the Ear”: The President [PDF]
, 1918 openalex +1 more source
Effect and Threshold of Endoscopic Findings for CRS Control Status and Long‐Term Outcome Prediction
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background EPOS 2020 defined chronic rhinosinusitis (CRS) disease control using patient symptoms and medication usage but endoscopic findings were considered optional. The effect of adding endoscopic features, an appropriate threshold, and their association with present or future symptom control have not been studied.
Steven Chun‐Kang Liao +14 more
wiley +1 more source
Overcoming difficulties in implementing a universal newborn hearing screening program
The Turkish Journal of Pediatrics, 2005 The aim of this paper was to present our experience with a universal newborn hearing screening program, including the specific problems and difficulties faced since its beginning, along with the measures used to overcome them and to improve its ...
Stavros Korres +5 more
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