Results 121 to 130 of about 520 (132)
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European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2023
OBJECTIVE To present the prenatal features and postnatal outcomes of pregnancies with fetal nemaline myopathy (NM). STUDY DESIGN This was a retrospective study of nine cases with NM diagnosed by prenatal or postnatal clinical features and confirmed by ...
Qiuxia Yu +4 more
semanticscholar +1 more source
OBJECTIVE To present the prenatal features and postnatal outcomes of pregnancies with fetal nemaline myopathy (NM). STUDY DESIGN This was a retrospective study of nine cases with NM diagnosed by prenatal or postnatal clinical features and confirmed by ...
Qiuxia Yu +4 more
semanticscholar +1 more source
Transcriptomic analysis of yak longissimus dorsi muscle identifies genes associated with tenderness
Animal Biotechnology, 2023Meat tenderness is an important sensory index when consumers choose meat products, which determines the value of meat products and consumers’ buying intentions. Yak meat is rich in nutrition and unique in flavor, which is favored by consumers.
Kemin Jing +11 more
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Molecular syndromology
Nemaline myopathy (NEM) is a heterogeneous muscle disease, which usually presents with hypotonia and muscle weakness. Biallelic pathogenic variants of KLHL40 gene cause severe form of NEM (NEM8), which leads to a wide range of symptoms, including hypotonia, muscle weakness, joint contractures and fractures.
Beria, Sönmez +10 more
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Nemaline myopathy (NEM) is a heterogeneous muscle disease, which usually presents with hypotonia and muscle weakness. Biallelic pathogenic variants of KLHL40 gene cause severe form of NEM (NEM8), which leads to a wide range of symptoms, including hypotonia, muscle weakness, joint contractures and fractures.
Beria, Sönmez +10 more
openaire +1 more source
Trio Whole Genome Sequencing for Diagnosis of Neonates with Multiple Congenital Anomalies.
NeonatologyBACKGROUND Genetic disorders are major causes of morbidity and mortality in neonatal intensive care units (NICUs), yet traditional tests like karyotyping and chromosomal microarray (CMA) often fail to provide a diagnosis, resulting in a "diagnostic ...
Hyun Ho Kim +3 more
semanticscholar +1 more source
[A case of KLHL40 mutation related nemaline myopathy].
Zhonghua er ke za zhi = Chinese journal of pediatrics, 2016D. Song, T. Ji, X. Bao
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A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
Human Molecular Genetics, 2023Fathimath Faiz +2 more
exaly
[A case of KLHL40 mutation related nemaline myopathy].
Zhonghua er ke za zhi = Chinese journal of pediatricsD Y, Song, T Y, Ji, X H, Bao
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