Mosaic tetraploidy in a two-year-old female

Cervical spine anomalies and tumors in Weaver syndrome.

American journal of medical genetics·2001

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Nature genetics·2001

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

American journal of medical genetics·2000

Spinal muscular atrophy variant with congenital fractures.

American journal of medical genetics·1999

Chondrodysplasia punctata stemming from maternal lupus erythematosus.

American journal of medical genetics·1999

Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research·1999

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

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Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

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

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

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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

Superficial Acral Fibromyxoma of Ring Finger: A Rare Entity and Its Management.

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India·2026

Salvage of a 5-Year Neglected Distal Femur Nonunion in a Refugee: A Case Report.

Case reports in orthopedics·2026

Tourniquet Application by Bystanders Fails to Improve Acuity.

The Journal of emergency medicine·2026

From brain drain to brain circulation: evidence from women scientists in OWSD Honduras National Chapter.

Frontiers in research metrics and analytics·2026

The Great Mimicker, a Rare Pleural Presentation.

CHEST pulmonary·2026

Reevaluation of Human Epidermal Growth Factor Receptor 2 (HER2) Expression in Breast Cancer Samples Previously Scored as Immunohistochemistry 0 or 1+ to Characterize HER2-Ultralow Prevalence.

Archives of pathology & laboratory medicine·2026

Related Experiment Videos

Mosaic tetraploidy in a two-year-old female

Related Concept Videos

Cervical spine anomalies and tumors in Weaver syndrome.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

Spinal muscular atrophy variant with congenital fractures.

Chondrodysplasia punctata stemming from maternal lupus erythematosus.

Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

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.

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Superficial Acral Fibromyxoma of Ring Finger: A Rare Entity and Its Management.

Salvage of a 5-Year Neglected Distal Femur Nonunion in a Refugee: A Case Report.

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