Abnormalities resulting from a familial pericentric inversion of chromosome 18

Genetics of Lupinus : IV. Colonization and Genetic Variability in Lupinus succulentus.

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De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature.

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A distinctive pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21.1;q12) chromosome translocation.

The American journal of pathology·2001

Ring chromosome 8 syndrome: further characterization.

American journal of medical genetics·1999

De novo partial duplications 1p: report of two new cases and review.

American journal of medical genetics·1999

Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q.

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

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

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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

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

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Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

The dynamics of ciliogenesis in prepubertal mouse meiosis reveals new clues about testis maturation.

Frontiers in cell and developmental biology·2026

Somatic Cells in the Anuran Testis.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation·2026

Mixed evidence that dosage sensitive genes drive global dosage compensation in flour beetles.

Genome biology and evolution·2026

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

Frontiers in endocrinology·2026

[Genetic Dystonias].

Medicina·2026

Related Experiment Videos

Abnormalities resulting from a familial pericentric inversion of chromosome 18

Related Concept Videos

Genetics of Lupinus : IV. Colonization and Genetic Variability in Lupinus succulentus.

De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature.

A distinctive pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21.1;q12) chromosome translocation.

Ring chromosome 8 syndrome: further characterization.

De novo partial duplications 1p: report of two new cases and review.

Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q.

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

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

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

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

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

The dynamics of ciliogenesis in prepubertal mouse meiosis reveals new clues about testis maturation.

Somatic Cells in the Anuran Testis.

Mixed evidence that dosage sensitive genes drive global dosage compensation in flour beetles.

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

[Genetic Dystonias].

Related Experiment Videos

Abnormalities resulting from a familial pericentric inversion of chromosome 18

Related Concept Videos

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