Related Experiment Videos
[Partial trisomy 13 in a family with balanced translocation (13 q-;16 q plus) (author's transl)]
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Sperm analyses, genetic counselling and therapy in an infertile carrier of a supernumerary marker chromosome 15.
Advances in medical sciences·2007
Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
European journal of medical genetics·2006
Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion.
Acta neurologica Scandinavica·2006
Chromosomal aberrations in 130 patients with multiple myeloma studied by interphase FISH: diagnostic and prognostic relevance.
Cancer genetics and cytogenetics·2006
Application of specific cytologic, cytogenetic and molecular-cytogenetic techniques for the characterization of solid tumors.
Roczniki Akademii Medycznej w Bialymstoku (1995)·2005
[Diagnosis of retinal vascular changes in diabetic children by means of fluorescein-angiography (author's transl)].
Monatsschrift fur Kinderheilkunde·1980
[Epidemiological and socio-psychological aspects of accidents in childhood (author's transl)].
Monatsschrift fur Kinderheilkunde·1980
[Biochemical changes after endurance exercise in children and juveniles (author's transl)].
Monatsschrift fur Kinderheilkunde·1980
[Bronchial asthma in a female child of 3 1/2: the role of family dynamics (author's transl)].
Monatsschrift fur Kinderheilkunde·1980
[Diagnostic significance of lactate and lysozyme concentrations in cerebrospinal fluids inchildren with meningitis (author's transl)].
Monatsschrift fur Kinderheilkunde·1980
[Clinico-pathological data in infants with different types of nephrotic syndrome (author's transl)].
Monatsschrift fur Kinderheilkunde·1980
Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis.
Nature communications·2026
High-resolution genomic architecture of a 1.71-Mb inverted SNCA triplication in a patient-derived PARK4 model.
Biochemical and biophysical research communications·2026
Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants.
Journal of ophthalmic & vision research·2026
WFS1 Deficiency Impairs PIAS4-Associated SUMOylation and Increases Ubiquitin-Mediated Spermatogenesis-Related Protein Degradation Leading to Testicular Male Infertility.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026