Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21

Novel mutation of the initiation codon of PAX9 causes oligodontia.

Journal of dental research·2004

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

Journal of medical genetics·2001

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

Journal of medical genetics·2000

Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA.

Genomics·1999

Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition.

American journal of medical genetics·1999

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.

Human molecular genetics·1997

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

Characteristics of Monozygotic Twins Discordant for Anorexia Nervosa: Comprehensive Risk Evaluation for Anorexia Nervosa in Twins (CREAT) Study.

European eating disorders review : the journal of the Eating Disorders Association·2026

Emerging molecular mechanisms of the ECM-exosome growth-plate axis in idiopathic short stature.

Frontiers in cell and developmental biology·2026

Diagnostic classification of children and adolescents with high-functioning autism spectrum disorder based on brain functional network characteristics of the dense individualized and common connectivity-based cortical landmark model.

Frontiers in psychiatry·2026

Single-Cell and Single-Embryo RNA Sequencing.

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

Triple sex marker failure in male DNA: AMELY, Y-InDel, and terminal Yq deletion resolved by integrated STR/NGS analysis.

Forensic science international. Genetics·2026

Timeline of sex differentiation and stabilization in zebrafish: Interplay between methyl-sensitive transcription factors, prostaglandin-related genes and DNA methylation.

European journal of cell biology·2026

Related Experiment Videos

Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21

Related Concept Videos

Novel mutation of the initiation codon of PAX9 causes oligodontia.

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA.

Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition.

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.

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.

Characteristics of Monozygotic Twins Discordant for Anorexia Nervosa: Comprehensive Risk Evaluation for Anorexia Nervosa in Twins (CREAT) Study.

Emerging molecular mechanisms of the ECM-exosome growth-plate axis in idiopathic short stature.

Diagnostic classification of children and adolescents with high-functioning autism spectrum disorder based on brain functional network characteristics of the dense individualized and common connectivity-based cortical landmark model.

Single-Cell and Single-Embryo RNA Sequencing.

Triple sex marker failure in male DNA: AMELY, Y-InDel, and terminal Yq deletion resolved by integrated STR/NGS analysis.

Timeline of sex differentiation and stabilization in zebrafish: Interplay between methyl-sensitive transcription factors, prostaglandin-related genes and DNA methylation.

Related Experiment Videos

Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21

Related Concept Videos

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