Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome

Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder.

Translational psychiatry·2015

Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder.

Molecular psychiatry·2011

[Heterozygous alpha-1-antitrypsin deficiency (PiMZ): risk factor in the development of primary liver carcinoma in non-cirrhotic liver?].

Zeitschrift fur Gastroenterologie·2010

Susceptibility for alcoholism: DRD4 exon III polymorphism: a case-control and a family-based association approach.

Addiction biology·2010

Qualitative variation of photolabelled benzodiazepine receptors in different species.

Neurochemistry international·2010

Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screening.

Endoscopy·2009

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

Overcoming a diagnostic blindspot: Identifying balanced translocations in Mendelian rare disease cohorts.

medRxiv : the preprint server for health sciences·2026

Organelle Volume Facilitates Spindle Positioning During C . elegans Female Meiosis.

bioRxiv : the preprint server for biology·2026

Somatic instability of the C9orf72 repeat expansion in blood differs between patients with amyotrophic lateral sclerosis or frontotemporal dementia.

medRxiv : the preprint server for health sciences·2026

FAT1 generates a nuclear fragment that impairs DNA damage repair in gastric cancer.

The Journal of biological chemistry·2026

Results from the VANISH study: A prospective multicenter study validating a single-nucleotide polymorphism-based noninvasive prenatal test to assess aneuploidy risk in surviving twins of vanishing twin pregnancies.

Pregnancy (Hoboken, N.J.)·2026

Loss-of-function variants in CFAP57, SEPTIN4, SPEM2, and CFAP46 cause asthenoteratozoospermia.

Human reproduction (Oxford, England)·2026

Related Experiment Videos

Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome

Related Concept Videos

Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder.

Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder.

[Heterozygous alpha-1-antitrypsin deficiency (PiMZ): risk factor in the development of primary liver carcinoma in non-cirrhotic liver?].

Susceptibility for alcoholism: DRD4 exon III polymorphism: a case-control and a family-based association approach.

Qualitative variation of photolabelled benzodiazepine receptors in different species.

Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screening.

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.

Overcoming a diagnostic blindspot: Identifying balanced translocations in Mendelian rare disease cohorts.

Organelle Volume Facilitates Spindle Positioning During C . elegans Female Meiosis.

Somatic instability of the C9orf72 repeat expansion in blood differs between patients with amyotrophic lateral sclerosis or frontotemporal dementia.

FAT1 generates a nuclear fragment that impairs DNA damage repair in gastric cancer.

Results from the VANISH study: A prospective multicenter study validating a single-nucleotide polymorphism-based noninvasive prenatal test to assess aneuploidy risk in surviving twins of vanishing twin pregnancies.

Loss-of-function variants in CFAP57, SEPTIN4, SPEM2, and CFAP46 cause asthenoteratozoospermia.

Related Experiment Videos

Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome

Related Concept Videos

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