Concordant metaphyseal dysostosis type Schmid in twins

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

Nature genetics·1996

Gene therapy for ornithine transcarbamylase deficiency.

Acta paediatrica Japonica : Overseas edition·1996

The heparin-bound fraction of human lipoprotein-deficient serum inhibits endocytic uptake of oxidized low density lipoprotein by macrophages.

Atherosclerosis·1996

Predominant expression of a receptor tyrosine kinase, TIE, in hematopoietic stem cells and B cells.

Blood·1996

Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts.

American journal of kidney diseases : the official journal of the National Kidney Foundation·1995

A late-appearing Philadelphia chromosome in acute lymphoblastic leukemia confirmed by expression of BCR-ABL mRNA.

Leukemia·1995

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

Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.

JIMD reports·2026

Disrupting fzd9b in Zebrafish Recapitulates Stress- and Anxiety-Like Behaviours Relevant to Williams Syndrome.

Molecular neurobiology·2026

Calbindin stratifies midbrain dopaminergic neurons governing distinct aspects of locomotion.

Proceedings of the National Academy of Sciences of the United States of America·2026

Reduced dosage of Kmt2d modifies Tbx1 haploinsufficiency toward phenotypes of 22q11.2DS.

JCI insight·2026

Exploring the Causal Relationship Between Sex Hormones and Depression by Means of Two-Sample Mendelian Randomization Analysis.

Actas espanolas de psiquiatria·2026

Generation of 5 induced pluripotent stem cell lines with copy number variations in 22q11.2.

Stem cell research·2026

Related Experiment Videos

Concordant metaphyseal dysostosis type Schmid in twins

Related Concept Videos

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

Gene therapy for ornithine transcarbamylase deficiency.

The heparin-bound fraction of human lipoprotein-deficient serum inhibits endocytic uptake of oxidized low density lipoprotein by macrophages.

Predominant expression of a receptor tyrosine kinase, TIE, in hematopoietic stem cells and B cells.

Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts.

A late-appearing Philadelphia chromosome in acute lymphoblastic leukemia confirmed by expression of BCR-ABL mRNA.

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.

Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.

Disrupting fzd9b in Zebrafish Recapitulates Stress- and Anxiety-Like Behaviours Relevant to Williams Syndrome.

Calbindin stratifies midbrain dopaminergic neurons governing distinct aspects of locomotion.

Reduced dosage of Kmt2d modifies Tbx1 haploinsufficiency toward phenotypes of 22q11.2DS.

Exploring the Causal Relationship Between Sex Hormones and Depression by Means of Two-Sample Mendelian Randomization Analysis.

Generation of 5 induced pluripotent stem cell lines with copy number variations in 22q11.2.

Related Experiment Videos

Concordant metaphyseal dysostosis type Schmid in twins

Related Concept Videos

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