On the new policy for reports on chromosomal anomalies

Novel (CA)n marker DXYS241 on the nonrecombinant part of the human Y chromosome.

Human biology·1999

Polymerase chain reaction analysis of the Y chromosome long arm in azoospermic patients: lack of the Y chromosome recognition motif (YRRM1) gene.

International journal of urology : official journal of the Japanese Urological Association·1998

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.

Nature·1998

YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31.

Genomics·1997

A novel (CA)n polymorphism on 6p21.1-21.2.

The Japanese journal of human genetics·1996

Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.

American journal of human genetics·1996

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

Human genetics·2026

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Human genetics·2026

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

Human genetics·2026

The Russian FSHD registry: a first look at the cohort.

Human genetics·2026

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Human genetics·2026

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

Human genetics·2026

Effects of thermal drying methods on characteristic volatile organic compounds of passion fruit (Passiflora edulis Sims) peel: A multi-analytical approach combining GC-MS, GC-IMS, E-nose, and multivariate statistical analysis.

Food chemistry·2026

Quasi-real-time monitoring of volatile organic compounds release behavior during garlic discoloration using acoustic levitation-GC-MS integrated with chemometrics.

Food research international (Ottawa, Ont.)·2026

A Two-Step Prioritization Framework for the Nontargeted LC-HRMS Analysis of Chemicals of Environmental Concern and Byproducts during Drinking Water Production.

ACS measurement science au·2026

Synergistic "capture-and-catalysis" at a V2O3@NC/NHCS composite interface for the ultrasensitive electrochemical quantification of amaranth in complex matrices.

Mikrochimica acta·2026

Dealing with membrane stress through CASM.

Autophagy·2026

A Novel Equipment for VLE Studies: Ethanol and Water System at Moderate Pressures and Data Verification with a Direct Point-to-Point Test.

ACS omega·2026

Related Experiment Videos

On the new policy for reports on chromosomal anomalies

Related Concept Videos

Novel (CA)n marker DXYS241 on the nonrecombinant part of the human Y chromosome.

Polymerase chain reaction analysis of the Y chromosome long arm in azoospermic patients: lack of the Y chromosome recognition motif (YRRM1) gene.

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.

YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31.

A novel (CA)n polymorphism on 6p21.1-21.2.

Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

The Russian FSHD registry: a first look at the cohort.

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

Effects of thermal drying methods on characteristic volatile organic compounds of passion fruit (Passiflora edulis Sims) peel: A multi-analytical approach combining GC-MS, GC-IMS, E-nose, and multivariate statistical analysis.

Quasi-real-time monitoring of volatile organic compounds release behavior during garlic discoloration using acoustic levitation-GC-MS integrated with chemometrics.

A Two-Step Prioritization Framework for the Nontargeted LC-HRMS Analysis of Chemicals of Environmental Concern and Byproducts during Drinking Water Production.

Synergistic "capture-and-catalysis" at a V2O3@NC/NHCS composite interface for the ultrasensitive electrochemical quantification of amaranth in complex matrices.

Dealing with membrane stress through CASM.

A Novel Equipment for VLE Studies: Ethanol and Water System at Moderate Pressures and Data Verification with a Direct Point-to-Point Test.

Related Experiment Videos

On the new policy for reports on chromosomal anomalies

Related Concept Videos

Related Articles