A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

Clinical genetics·2001

Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.

American journal of human genetics·2000

Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis.

Prenatal diagnosis·2000

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

American journal of medical genetics·1999

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

American journal of medical genetics·1999

Longitudinal changes in cognitive and adaptive behavior in fragile X females: a prospective multicenter analysis.

American journal of medical genetics·1999

The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects.

Human genetics·2026

A genome-wide association study of cognitive impairment in a Chinese cohort of 1,040 individuals.

Human genetics·2026

Gene-based association analysis of depression risk among European ancestry Parkinson's disease patients.

Human genetics·2026

Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.

Human genetics·2026

Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.

Human genetics·2026

Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island.

Human genetics·2026

Spatial Lipidomic Analysis Using Secondary Ion Mass Spectrometry (SIMS).

Methods in molecular biology (Clifton, N.J.)·2026

Hierarchical dual-branch CNN-Transformer fusion for joint discrimination of white tea types and production years from near-infrared spectra.

Talanta·2026

Improved Chromatographic Alignment of GC-IMS Data Using Spectral Information.

ACS measurement science au·2026

Functional redundancy and synthetic haploinsufficiency among Arabidopsis ATP-citrate lyase genes.

Frontiers in plant science·2026

Resonant RF Circuit Enables Ion Containment and m/z-Dependent Axial Ejection for Corrected Time-of-Flight Discrimination.

Journal of the American Society for Mass Spectrometry·2026

δ13C Determination of Benzoic Acid by High-Resolution Orbitrap MS: How Sample Introduction Strategy Governs Accuracy and Precision.

Journal of the American Society for Mass Spectrometry·2026

Related Experiment Videos

A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9

Related Concept Videos

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.

Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis.

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

Longitudinal changes in cognitive and adaptive behavior in fragile X females: a prospective multicenter analysis.

The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects.

A genome-wide association study of cognitive impairment in a Chinese cohort of 1,040 individuals.

Gene-based association analysis of depression risk among European ancestry Parkinson's disease patients.

Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.

Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.

Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island.

Spatial Lipidomic Analysis Using Secondary Ion Mass Spectrometry (SIMS).

Hierarchical dual-branch CNN-Transformer fusion for joint discrimination of white tea types and production years from near-infrared spectra.

Improved Chromatographic Alignment of GC-IMS Data Using Spectral Information.

Functional redundancy and synthetic haploinsufficiency among Arabidopsis ATP-citrate lyase genes.

Resonant RF Circuit Enables Ion Containment and m/z-Dependent Axial Ejection for Corrected Time-of-Flight Discrimination.

δ13C Determination of Benzoic Acid by High-Resolution Orbitrap MS: How Sample Introduction Strategy Governs Accuracy and Precision.

Related Experiment Videos

A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9

Related Concept Videos

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