Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy

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

Ultrasound-based transient elastography combined with metabolic biomarkers enhances the diagnostic efficacy for pediatric MASLD.

Medicine·2026

Association between cardiometabolic index and lung function in US adolescents: A cross-sectional study from the 2007 to 2012 NHANES.

Medicine·2026

Prevalence and associated family and lifestyle factors of precocious puberty in children: A retrospective observational study.

Medicine·2026

Ultrasound assessment of diaphragm thickness and related determinants in healthy female adolescents: a retrospective study.

BMC pulmonary medicine·2026

The role of the transdiagnostic sleep and circadian intervention in adolescent bedtime and sleep quality: a pilot study.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine·2026

Child with genetically confirmed Prader-Willi syndrome.

BMJ case reports·2026

Related Experiment Videos

Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy

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.

Ultrasound-based transient elastography combined with metabolic biomarkers enhances the diagnostic efficacy for pediatric MASLD.

Association between cardiometabolic index and lung function in US adolescents: A cross-sectional study from the 2007 to 2012 NHANES.

Prevalence and associated family and lifestyle factors of precocious puberty in children: A retrospective observational study.

Ultrasound assessment of diaphragm thickness and related determinants in healthy female adolescents: a retrospective study.

The role of the transdiagnostic sleep and circadian intervention in adolescent bedtime and sleep quality: a pilot study.

Child with genetically confirmed Prader-Willi syndrome.

Related Experiment Videos

Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy

Related Concept Videos

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