Duplication deficiency syndrome in familial translocation (2q-;5p+)

Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.

European journal of medical genetics·2006

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

American journal of medical genetics. Part A·2005

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

Nature genetics·1999

Integrated genetic and physical map of the 1q31-->q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes.

Cytogenetics and cell genetics·1999

Retinitis pigmentosa: defined from a molecular point of view.

Survey of ophthalmology·1999

Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?

American journal of medical genetics·1998

Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

Humangenetik·1975

Climate associated variations in the human serum albumin level.

Humangenetik·1975

A technique for in situ karyotyping of primary amniotic fluid cell cultures.

Humangenetik·1975

Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

Humangenetik·1975

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

Humangenetik·1975

The Bf locus in the HLA region of chromosome 6: linkage and association studies.

Humangenetik·1975

Complementary spectral and volatile fingerprints enable discrimination of post-harvest processed arabica coffee using NIR spectroscopy and HS-GC-IMS.

Food chemistry·2026

Characterisation of the Novel HLA-A*23:163 Allele by Next-Generation Sequencing.

HLA·2026

Next-generation multiplexed targeted proteomics quantifies post-translational modifications in disease and compound-protein interactions with high throughput.

Nature communications·2026

Effect of Processing Methods on the Chemical Composition and Cytotoxicity Against Esophageal Cancer Cells of Fresh Taraxacum mongolicum Hand.-Mazz. Leaves.

Chemistry & biodiversity·2026

Integrated strategy for multivariate quality description of Lonicera japonica by UHPLC-HRMS approach.

Food chemistry: X·2026

Enzymatic, Nondestructive Sequencing of 5-Methylcytosine with Direct Methylation Sequencing (DM-Seq).

Methods in molecular biology (Clifton, N.J.)·2026

Related Experiment Videos

Duplication deficiency syndrome in familial translocation (2q-;5p+)

Related Concept Videos

Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

Integrated genetic and physical map of the 1q31-->q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes.

Retinitis pigmentosa: defined from a molecular point of view.

Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?

Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

Climate associated variations in the human serum albumin level.

A technique for in situ karyotyping of primary amniotic fluid cell cultures.

Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

The Bf locus in the HLA region of chromosome 6: linkage and association studies.

Complementary spectral and volatile fingerprints enable discrimination of post-harvest processed arabica coffee using NIR spectroscopy and HS-GC-IMS.

Characterisation of the Novel HLA-A*23:163 Allele by Next-Generation Sequencing.

Next-generation multiplexed targeted proteomics quantifies post-translational modifications in disease and compound-protein interactions with high throughput.

Effect of Processing Methods on the Chemical Composition and Cytotoxicity Against Esophageal Cancer Cells of Fresh Taraxacum mongolicum Hand.-Mazz. Leaves.

Integrated strategy for multivariate quality description of Lonicera japonica by UHPLC-HRMS approach.

Enzymatic, Nondestructive Sequencing of 5-Methylcytosine with Direct Methylation Sequencing (DM-Seq).

Related Experiment Videos

Duplication deficiency syndrome in familial translocation (2q-;5p+)

Related Concept Videos

Related Articles