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Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.

Current molecular medicine·2014

Cadmium Impairs p53 Activity in HepG2 Cells.

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Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects.

Blood cancer journal·2012

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

Journal of the neurological sciences·2010

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.

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Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

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Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Linkage between HLA-B8 and HLA-DQ2.5 contributes to ancestry-dependent risk for celiac disease.

Journal of human immunity·2026

Prenatal diagnosis and genetic counseling of a de novo 10q11.22q11.23 duplication associated with a normal development at 12 months of age.

Psychiatric genetics·2026

Decoding cell-cell communication in spatial transcriptomics: mechanistic insights, modeling constraints, and analytical caveats.

Briefings in bioinformatics·2026

Dynamic chromatin tethering of MDC1 regulates genome stability.

Nucleic acids research·2026

Circulating Levels of Remnant Cholesterol as Potential Biomarkers for Predicting Gestational Diabetes: A Systematic Review.

Journal of diabetes research·2026

Testing for Genetic Interactions in Complex Disease With Distance Correlation.

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Related Experiment Videos

Involvement of 9q22.1-31.3 region in pyloric stenosis

Related Concept Videos

Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene.

Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.

Cadmium Impairs p53 Activity in HepG2 Cells.

Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects.

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

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Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

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Linkage between HLA-B8 and HLA-DQ2.5 contributes to ancestry-dependent risk for celiac disease.

Prenatal diagnosis and genetic counseling of a de novo 10q11.22q11.23 duplication associated with a normal development at 12 months of age.

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Involvement of 9q22.1-31.3 region in pyloric stenosis

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