Autism and ring chromosome 18 mosaicism

The Floating-Harbor syndrome: two affected siblings in a family.

Clinical genetics·1996

XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning.

Genetic counseling (Geneva, Switzerland)·1995

Tetrasomy 9p: prenatal diagnosis and fetopathological findings in a second trimester male fetus.

Annales de genetique·1994

Duplication in the long arm of the X-chromosome associated with spastic paraparesis and premature menopause.

Genetic counseling (Geneva, Switzerland)·1993

A specific phenotype associated with trisomy 15 mosaicism.

Annales de genetique·1993

A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter).

Annales de genetique·1993

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Clinical genetics·2026

Spinal Muscular Atrophy in Adult Neurology Services in India.

Clinical genetics·2026

The Identification of the Novel HLA-B*18:01:01:98 Allele in an Individual From Western India.

HLA·2026

A 20-Year-Old Man With Disproportionate Chest Radiograph Abnormality.

CHEST pulmonary·2026

RETRACTED: Alam et al. Empirical Study of Autism Spectrum Disorder Diagnosis Using Facial Images by Improved Transfer Learning Approach. Bioengineering 2022, 9, 710.

Bioengineering (Basel, Switzerland)·2026

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.

The Journal of the Association of Physicians of India·2026

Ventricular Migration of Transcatheter Valve During Transcatheter Aortic Valve Replacement After Valve-Sparing Root Replacement: A Case Report.

Journal of the Society for Cardiovascular Angiography & Interventions·2026

Erratum: Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C>A for Exon 27 Splicing and Axonal Transport of SFPQ.

Neurology. Genetics·2026

Related Experiment Videos

Autism and ring chromosome 18 mosaicism

Related Concept Videos

The Floating-Harbor syndrome: two affected siblings in a family.

XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning.

Tetrasomy 9p: prenatal diagnosis and fetopathological findings in a second trimester male fetus.

Duplication in the long arm of the X-chromosome associated with spastic paraparesis and premature menopause.

A specific phenotype associated with trisomy 15 mosaicism.

A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter).

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Spinal Muscular Atrophy in Adult Neurology Services in India.

The Identification of the Novel HLA-B*18:01:01:98 Allele in an Individual From Western India.

A 20-Year-Old Man With Disproportionate Chest Radiograph Abnormality.

RETRACTED: Alam et al. Empirical Study of Autism Spectrum Disorder Diagnosis Using Facial Images by Improved Transfer Learning Approach. Bioengineering 2022, 9, 710.

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.

Ventricular Migration of Transcatheter Valve During Transcatheter Aortic Valve Replacement After Valve-Sparing Root Replacement: A Case Report.

Erratum: Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C>A for Exon 27 Splicing and Axonal Transport of SFPQ.

Related Experiment Videos

Autism and ring chromosome 18 mosaicism

Related Concept Videos

Related Articles