Deletion of the short arm of chromosome 20

Two novel pathogenic variants in MED13L: one familial and one isolated case.

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Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.

Molecular psychiatry·2020

Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.

Molecular cytogenetics·2016

Genomic copy number alterations in non-syndromic hearing loss.

Clinical genetics·2015

Multiple host-specificity loci of the broad host-range Rhizobium sp. NGR234 selected using the widely compatible legume Vigna unguiculata.

Plant molecular biology·2013

Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.

Molecular syndromology·2013

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

Successful management of paediatric chronic SIAD with oral urea: report of two cases.

Journal of pediatric endocrinology & metabolism : JPEM·2026

Neonatal Corneal Clouding as the Initial Manifestation of Biotinidase Deficiency.

Journal of pediatric ophthalmology and strabismus·2026

Storage-Pressure Urodynamic Risk in Children With Radiological Suspicion of Tethered Spinal Cord: A Single-Center Retrospective Comparative Study.

Neurourology and urodynamics·2026

Comparison of Blood Glucose Measurement Methods at Low Concentrations in Neonates at Risk for Hypoglycemia.

The journal of applied laboratory medicine·2026

Penile agenesis (aphallia): A rare case report with associated congenital anomalies.

Urology case reports·2026

Comparison of the Diagnostic Value of the Neutrophil-to-Lymphocyte Ratio Versus the Pediatric Appendicitis Scoring System in Children with Suspected Acute Appendicitis.

Bulletin of emergency and trauma·2026

Related Experiment Videos

Deletion of the short arm of chromosome 20

Related Concept Videos

Two novel pathogenic variants in MED13L: one familial and one isolated case.

Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.

Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.

Genomic copy number alterations in non-syndromic hearing loss.

Multiple host-specificity loci of the broad host-range Rhizobium sp. NGR234 selected using the widely compatible legume Vigna unguiculata.

Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.

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.

Successful management of paediatric chronic SIAD with oral urea: report of two cases.

Neonatal Corneal Clouding as the Initial Manifestation of Biotinidase Deficiency.

Storage-Pressure Urodynamic Risk in Children With Radiological Suspicion of Tethered Spinal Cord: A Single-Center Retrospective Comparative Study.

Comparison of Blood Glucose Measurement Methods at Low Concentrations in Neonates at Risk for Hypoglycemia.

Penile agenesis (aphallia): A rare case report with associated congenital anomalies.

Comparison of the Diagnostic Value of the Neutrophil-to-Lymphocyte Ratio Versus the Pediatric Appendicitis Scoring System in Children with Suspected Acute Appendicitis.

Related Experiment Videos

Deletion of the short arm of chromosome 20

Abstract:

Related Concept Videos

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