Results 111 to 120 of about 16,136 (213)
Perinatal Deaths in Twins by Zygosity
, 1995 The perinatal mortality among twin pregnancies by zygosity ws assessed. Of the 11,451 births, 130 twins were born at Yong Dong Severance Hospital between Apr. 1983 and Dec.
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Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao +5 more
wiley +1 more source
Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome. [PDF]
Eur J NeurolClinical variability in CHRND‐related congenital myasthenic syndrome ranges from isolated ocular involvement to severe neonatal‐onset disease with respiratory insufficiency. In a multicenter cohort of nine patients, ocular symptoms represented the core phenotype, while disease severity was influenced by genotype and presumed residual acetylcholine ...
Muhmann D +16 more
europepmc +2 more sources
Clinical Genetics, Volume 110, Issue 4, Page 438-448, October 2026.This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell +14 more
wiley +1 more source
F. tataricum intraspecies accessions zygosity and phenotypic traits assessment.
, 2016 F. tataricum intraspecies accessions zygosity and phenotypic traits assessment.
Alessandro Antonini (3175731) +13 more
core +1 more source
Plant Biotechnology Journal, Volume 24, Issue 10, Page 5392-5404, October 2026.ABSTRACT Haploid induction coupled with genome editing (HI‐Edit) enables direct modification of commercial crop varieties, bypassing the need for trait introgression or direct transformation of elite lines with CRISPR machinery. However, its widespread application has been constrained by low haploid editing rates (HER), the proportion of haploids ...
Dawei Liang +21 more
wiley +1 more source
Tracing ocular biometry and their heritability in twins in a hospital-based cohort in South India
Indian Journal of OphthalmologyPurpose: Twin studies, in the background of lack of twin registry in India, are a challenge. We report the response rates in tracing a hospital birth register-based cohort of twins using mail and door to door survey, ocular parameters influencing ...
Padma Paul +7 more
doaj +1 more source
The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly
Advanced Science, Volume 13, Issue 52, 18 September 2026.Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie +20 more
wiley +1 more source
Distribution of SNPs, type and zygosity of variants per chromosome in the two grape strains.
, 2016 Distribution of SNPs, type and zygosity of variants per chromosome in the two grape strains.
Yanshuai Xu (2141218) +6 more
core +1 more source
Clinical Pharmacology &Therapeutics, Volume 120, Issue 3, Page 731-744, September 2026.CYP2D6 metabolizes about 20% of commonly used drugs, including tamoxifen, a major hormone therapy for breast cancer. Although the relationship between tamoxifen pharmacokinetics and CYP2D6 genotype has been demonstrated, residual variability in drug exposure remains unexplained.
Jeanne Petit +7 more
wiley +1 more source