The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation

Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.

Journal of medical genetics·1997

Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.

Journal of neurology, neurosurgery, and psychiatry·1995

Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.

American journal of medical genetics·1994

Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development.

Clinical genetics·1992

Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome.

European journal of pediatrics·1992

Pathogenesis of congenital cystic adenomatoid malformation of the lung.

Histopathology·1992

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

Pan-genomic analysis of alternative polyadenylation reveals a 3'UTR remodeling regulatory layer controlling salt tolerance in rice.

Journal of integrative plant biology·2026

PRMT1-SFPQ regulates intron retention to control matrix gene expression during craniofacial development.

eLife·2026

Atypical Age-Related Patterns of Neural Signal Complexity in Autism Spectrum Disorder.

CNS neuroscience & therapeutics·2026

Who Are We Missing: Examining Health Insurance Coverage for Expanded Carrier Screening.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Goltz Syndrome With Large Esophageal Squamous Papillomas-A Unique Cause of Dysphagia Amenable to Endoscopic Treatment.

ACG case reports journal·2026

Characteristics of gut microbiota dysbiosis in patients with depression: a visual analysis of knowledge maps.

Frontiers in microbiology·2026

Related Experiment Videos

The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation

Related Concept Videos

Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.

Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.

Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.

Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development.

Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome.

Pathogenesis of congenital cystic adenomatoid malformation of the lung.

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.

Pan-genomic analysis of alternative polyadenylation reveals a 3'UTR remodeling regulatory layer controlling salt tolerance in rice.

PRMT1-SFPQ regulates intron retention to control matrix gene expression during craniofacial development.

Atypical Age-Related Patterns of Neural Signal Complexity in Autism Spectrum Disorder.

Who Are We Missing: Examining Health Insurance Coverage for Expanded Carrier Screening.

Goltz Syndrome With Large Esophageal Squamous Papillomas-A Unique Cause of Dysphagia Amenable to Endoscopic Treatment.

Characteristics of gut microbiota dysbiosis in patients with depression: a visual analysis of knowledge maps.

Related Experiment Videos

The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation

Related Concept Videos

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