A male with karyotype 46,XX

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.

Nature genetics·1995

The effect of manganese on the oxidation of chemicals by lignin peroxidase.

Biochemistry·1995

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.

Nature genetics·1995

Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23.

European journal of biochemistry·1995

The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells.

Oncogene·1995

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.

Nature·1995

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

Ultrasound-based peritoneal membrane thickness as a marker of inflammation and technique failure in peritoneal dialysis.

Journal of nephrology·2026

An Empty Stomach or False Reassurance? Aspiration Pneumonitis Despite Prolonged Preoperative Fasting in a Low-Risk Patient.

Clinical case reports·2026

Patient-Based Real-Time Quality Control for Semiquantitative Tests Based on Hierarchical Differences.

Annals of laboratory medicine·2026

Benign but burdensome: Complications and management of benign prostatic hyperplasia during active surveillance of prostate cancer in a large cohort.

Urologic oncology·2026

[Impact of the high-altitude environment on preserved ratio impaired spirometry and its underlying mechanisms].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases·2026

Classification of Patient-Ventilator Asynchronies, Development of an Updated Conceptual Framework: Scoping Review.

Respiratory medicine·2026

Related Experiment Videos

A male with karyotype 46,XX

Related Concept Videos

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.

The effect of manganese on the oxidation of chemicals by lignin peroxidase.

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.

Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23.

The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells.

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.

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.

Ultrasound-based peritoneal membrane thickness as a marker of inflammation and technique failure in peritoneal dialysis.

An Empty Stomach or False Reassurance? Aspiration Pneumonitis Despite Prolonged Preoperative Fasting in a Low-Risk Patient.

Patient-Based Real-Time Quality Control for Semiquantitative Tests Based on Hierarchical Differences.

Benign but burdensome: Complications and management of benign prostatic hyperplasia during active surveillance of prostate cancer in a large cohort.

[Impact of the high-altitude environment on preserved ratio impaired spirometry and its underlying mechanisms].

Classification of Patient-Ventilator Asynchronies, Development of an Updated Conceptual Framework: Scoping Review.

Related Experiment Videos

A male with karyotype 46,XX

Related Concept Videos

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