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Coffin Siris Syndrome sentence examples within matrix associated actin



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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10.1136/jmedgenet-2020-107317

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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10.24873/J.RPEMD.2021.03.826

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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10.1158/1535-7163.MCT-21-0433

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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10.1016/j.ijporl.2019.109735

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


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10.1097/YPG.0000000000000225

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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10.1016/j.ensci.2018.11.021

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


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