ERD

RNU4atac-opathy

Project: GrowCELL

Updated at: 01-11-2024

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Project acronym GrowCELL

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Microcephalic Osteodysplastic Primordial Dwarfism Type II

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndro...

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Defining the clinical phenotype of Saul–Wilson syndrome

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Growth in individuals with Saul–Wilson syndrome

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Periodic Reporting for period 3 - GrowCELL (The smallest of the small: determining size through cell number)

Project: GrowCELL

Updated at: 27-04-2024

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Project acronym GrowCELL

Resources

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RNU4atac-opathy

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Microcephalic Osteodysplastic Primordial Dwarfism Type II

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndro...

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Defining the clinical phenotype of Saul–Wilson syndrome

Growth in individuals with Saul–Wilson syndrome

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Periodic Reporting for period 3 - GrowCELL (The smallest of the small: determining size through cell number)