The Schinzel syndrome in a mother and daughter

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

Clinical genetics·2015

Functional Significance of MMP3 and TIMP2 Polymorphisms in Cleft Lip/Palate.

Journal of dental research·2014

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.

American journal of medical genetics. Part A·2012

Association of AXIN2 with non-syndromic oral clefts in multiple populations.

Journal of dental research·2012

Comparative analysis with collagen type II distinguishes cartilage oligomeric matrix protein as a primary TGFβ-responsive gene.

Osteoarthritis and cartilage·2011

The role of cartilage oligomeric matrix protein (COMP) in skeletal disease.

Current drug targets·2008

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

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Body composition displays expected and unexpected contributions to blood pressure and glycemia in young South African women.

BMJ open diabetes research & care·2026

Reduced prevalence of rhinitis and eczema but not wheezing in native-born children from cross-border marriages.

Pediatrics and neonatology·2026

Exploring Traditional Breast Cancer Risk Genes Among Aboriginal and Torres Strait Islander Women.

Life (Basel, Switzerland)·2026

"I tell them to have Sumud, have Sabr, for your children, for yourself": Culturally informed resilience and humanitarian gaps among Syrian refugee women in Greece.

Women's health (London, England)·2026

Maternal systemic autoimmune rheumatic diseases and childhood mental disorders: a nationwide cohort study.

Lupus science & medicine·2026

Understanding Caregivers' Experiences of Rett Syndrome: A Multinational Study of Symptoms and Meaningful Outcomes of Potential Treatments.

Neurology and therapy·2026

Related Experiment Videos

The Schinzel syndrome in a mother and daughter

Related Concept Videos

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

Functional Significance of MMP3 and TIMP2 Polymorphisms in Cleft Lip/Palate.

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.

Association of AXIN2 with non-syndromic oral clefts in multiple populations.

Comparative analysis with collagen type II distinguishes cartilage oligomeric matrix protein as a primary TGFβ-responsive gene.

The role of cartilage oligomeric matrix protein (COMP) in skeletal disease.

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.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Body composition displays expected and unexpected contributions to blood pressure and glycemia in young South African women.

Reduced prevalence of rhinitis and eczema but not wheezing in native-born children from cross-border marriages.

Exploring Traditional Breast Cancer Risk Genes Among Aboriginal and Torres Strait Islander Women.

"I tell them to have Sumud, have Sabr, for your children, for yourself": Culturally informed resilience and humanitarian gaps among Syrian refugee women in Greece.

Maternal systemic autoimmune rheumatic diseases and childhood mental disorders: a nationwide cohort study.

Understanding Caregivers' Experiences of Rett Syndrome: A Multinational Study of Symptoms and Meaningful Outcomes of Potential Treatments.

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The Schinzel syndrome in a mother and daughter

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