Complex balanced translocation of chromosomes 2, 3, and 13

Functional genomics of human brain development and implications for autism spectrum disorders.

Translational psychiatry·2015

Identification of differentially expressed microRNAs across the developing human brain.

Molecular psychiatry·2013

Methylation of an intronic region regulates miR-199a in testicular tumor malignancy.

Oncogene·2011

Genome-wide DNA methylation profiling reveals novel epigenetically regulated genes and non-coding RNAs in human testicular cancer.

British journal of cancer·2010

Development of a human mitochondria-focused cDNA microarray (hMitChip) and validation in skeletal muscle cells: implications for pharmaco- and mitogenomics.

The pharmacogenomics journal·2006

Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain.

Molecular and cellular endocrinology·2004

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

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Human genetics·2026

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Regenerative therapy·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

Related Experiment Videos

Complex balanced translocation of chromosomes 2, 3, and 13

Related Concept Videos

Functional genomics of human brain development and implications for autism spectrum disorders.

Identification of differentially expressed microRNAs across the developing human brain.

Methylation of an intronic region regulates miR-199a in testicular tumor malignancy.

Genome-wide DNA methylation profiling reveals novel epigenetically regulated genes and non-coding RNAs in human testicular cancer.

Development of a human mitochondria-focused cDNA microarray (hMitChip) and validation in skeletal muscle cells: implications for pharmaco- and mitogenomics.

Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain.

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.

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

Related Experiment Videos

Complex balanced translocation of chromosomes 2, 3, and 13

Related Concept Videos

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