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Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

The Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome

Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

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Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1

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Oral findings in Coffin-Siris syndrome: A case report

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience.

CHARGE syndrome and related disorders: A mechanistic link.

Evidence for a low‐penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6

Temporal bone dysplasia in Coffin-Siris syndrome

Chromatin remodeler Arid1a regulates subplate neuron identity and wiring of cortical connectivity

Rehabilitation in a rare case of coffin-siris syndrome with major cognitive and behavioural disorders.

Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.

Postoperative Bronchospasm in a Child with Coffin-Siris Syndrome Following Administration of Sugammadex

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum

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SMARCA4: Implications of an altered chromatin-remodeling gene for cancer development and therapy.

Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling

Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin-Siris Syndrome.

Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation

Raised intra-ocular pressure in the setting of Coffin-Siris syndrome

ARID1B gene mutation in a patient with Coffin-Siris syndrome and Autism Spectrum Disorder

A novel human stem cell model for Coffin-Siris Syndrome like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival.

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

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SMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome.

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Corpus callosum metrics predict severity of visuospatial and neuromotor dysfuntions in ARID1B mutations with Coffin-Siris syndrome.

Digital photo-editing in preoperative counselling for cosmetic corneal tattooing

Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease

Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

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Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case

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Coffin Siris Syndrome