Partial deletion of the short arm of chromosome 3

The clinical utility of genetic testing of tissues from pregnancy losses.

BJOG : an international journal of obstetrics and gynaecology·2016

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Nature communications·2015

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Human mutation·2009

Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2009

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

Journal of medical genetics·2008

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

American journal of medical genetics. Part A·2007

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Clinical genetics·2026

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clinical genetics·2026

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Novel application of reversed-phase high performance liquid chromatography-tandem mass spectrometry for enantioselective determination of cyclaniliprole enantiomers in plant-derived foods.

Journal of chromatography. A·2026

Splenic Sequestration and Suspected Transient Aplastic Crisis in Sickle-Cell SC/Hemoglobin-G Disease in an Adult: A Case Report.

Clinical medicine insights. Case reports·2026

Direct-on-Filter FTIR Analysis of Respirable Crystalline Silica: A Field Study to Demonstrate Utility for Routine Non-regulatory Monitoring in Coal Mines.

Mining, metallurgy & exploration·2026

[Development and performance testing of a high-sensitivity pulsed flame photometric detector].

Se pu = Chinese journal of chromatography·2026

A phase-transfer strategy for high-throughput determination of total oxidizable substances in soil.

Journal of chromatography. A·2026

Fragment-Resolved Carbon and Hydrogen Isotope Analysis of Urinary Steroids by Orbitrap Mass Spectrometry.

Analytical chemistry·2026

Related Experiment Videos

Partial deletion of the short arm of chromosome 3

Related Concept Videos

The clinical utility of genetic testing of tissues from pregnancy losses.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Novel application of reversed-phase high performance liquid chromatography-tandem mass spectrometry for enantioselective determination of cyclaniliprole enantiomers in plant-derived foods.

Splenic Sequestration and Suspected Transient Aplastic Crisis in Sickle-Cell SC/Hemoglobin-G Disease in an Adult: A Case Report.

Direct-on-Filter FTIR Analysis of Respirable Crystalline Silica: A Field Study to Demonstrate Utility for Routine Non-regulatory Monitoring in Coal Mines.

[Development and performance testing of a high-sensitivity pulsed flame photometric detector].

A phase-transfer strategy for high-throughput determination of total oxidizable substances in soil.

Fragment-Resolved Carbon and Hydrogen Isotope Analysis of Urinary Steroids by Orbitrap Mass Spectrometry.

Related Experiment Videos

Partial deletion of the short arm of chromosome 3

Related Concept Videos

Related Articles