Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Clinical genetics·2016

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

European journal of medical genetics·2010

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Journal of medical genetics·2008

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.

Clinical and experimental immunology·2008

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Clinical genetics·2007

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

Journal of medical genetics·2007

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

Whole-mount optical clearing of rabbit tenuissimus muscle for assessment of muscle spindle morphology.

Frontiers in neuroscience·2026

Screening for obstructive sleep apnoea in the general population in Iceland and uptake of positive airway pressure treatment: a prospective cohort study.

BMJ open·2026

Novel insights into β3-adrenoceptor function in a model of retinopathy of prematurity: the contribution of astrocytes to retinal protection.

Frontiers in neuroscience·2026

Exchangeable copper concentration and 3-kilodalton ultrafiltered urinary copper measurements are successfully adapted and partially validated in dogs.

American journal of veterinary research·2026

HS-AFM Applications to Study Membrane Proteins.

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

Artificial versus natural atoms: the uncanny capability of the many-body Schrödinger equation to produce emergent behavior.

Journal of physics. Condensed matter : an Institute of Physics journal·2026

Related Experiment Videos

Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim

Related Concept Videos

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

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.

Whole-mount optical clearing of rabbit tenuissimus muscle for assessment of muscle spindle morphology.

Screening for obstructive sleep apnoea in the general population in Iceland and uptake of positive airway pressure treatment: a prospective cohort study.

Novel insights into β3-adrenoceptor function in a model of retinopathy of prematurity: the contribution of astrocytes to retinal protection.

Exchangeable copper concentration and 3-kilodalton ultrafiltered urinary copper measurements are successfully adapted and partially validated in dogs.

HS-AFM Applications to Study Membrane Proteins.

Artificial versus natural atoms: the uncanny capability of the many-body Schrödinger equation to produce emergent behavior.

Related Experiment Videos

Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim

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