Structural abnormalities of chromosome 18. I. A case of 18q-, with autopsy findings

Genetic heterogeneity for a Nijmegen breakage-like syndrome.

Clinical genetics·2003

[Santiago Ramon y Cajal and neurobiology].

Svensk medicinhistorisk tidskrift·2002

Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement.

Annales de genetique·2000

Ring chromosome 9 with a 9p22.3-p24.3 duplication.

European journal of pediatrics·1999

Abnormal methylation does not prevent X inactivation in ICF patients.

Cytogenetics and cell genetics·1999

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Journal of medical genetics·1998

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.

American journal of human genetics·2026

Multiple classification of childhood and juvenile autism spectrum disorder from ABIDE-II sMRI using BN-GO-CNN.

Biomedizinische Technik. Biomedical engineering·2026

Protocol to define Sox9 target programs during mouse limb chondrogenesis using scRNA-seq and CUT&RUN integration.

STAR protocols·2026

Genetic characterization of inherited retinal dystrophy in a Northwestern Chinese cohort: A single-center study over a 5-year period in Shaanxi, China.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026

The genome sequence of a douglasiid moth, Tinagma dryadis Staudinger, 1872 (Lepidoptera: Douglasiidae).

Wellcome open research·2026

[Clinicopathological and molecular genetic characteristics of embryonal rhabdomyosarcoma with divergent neuroectodermal differentiation: an analysis of 17 cases].

Zhonghua bing li xue za zhi = Chinese journal of pathology·2026

Related Experiment Videos

Structural abnormalities of chromosome 18. I. A case of 18q-, with autopsy findings

Related Concept Videos

Genetic heterogeneity for a Nijmegen breakage-like syndrome.

[Santiago Ramon y Cajal and neurobiology].

Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement.

Ring chromosome 9 with a 9p22.3-p24.3 duplication.

Abnormal methylation does not prevent X inactivation in ICF patients.

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.

Multiple classification of childhood and juvenile autism spectrum disorder from ABIDE-II sMRI using BN-GO-CNN.

Protocol to define Sox9 target programs during mouse limb chondrogenesis using scRNA-seq and CUT&RUN integration.

Genetic characterization of inherited retinal dystrophy in a Northwestern Chinese cohort: A single-center study over a 5-year period in Shaanxi, China.

The genome sequence of a douglasiid moth, Tinagma dryadis Staudinger, 1872 (Lepidoptera: Douglasiidae).

[Clinicopathological and molecular genetic characteristics of embryonal rhabdomyosarcoma with divergent neuroectodermal differentiation: an analysis of 17 cases].

Related Experiment Videos

Structural abnormalities of chromosome 18. I. A case of 18q-, with autopsy findings

Related Concept Videos

Related Articles