Recent Posts

Blog, Patient Advocacy
Mutual Collaboration focus for CRDN Companies Forum
Posted 11th June 2021

Mutual Collaboration focus for CRDN Companies Forum

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Blog , Patient Advocacy , epilepsy , cerebral palsy
Helping to Further the Patient Impact of Genomics
Posted 4th June 2021

Helping to Further the Patient Impact of Genomics

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Blog , Patient Advocacy , RareDiseases , Schinzel-Giedion Syndrome , Chapter 1
How Schinzel-Giedion Syndrome (SGS) has changed our lives
Posted 28th May 2021

How Schinzel-Giedion Syndrome (SGS) has changed our lives

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Blog , Patient Advocacy , epilepsy , RareDiseases , Chapter 8
Dr Charles Steward joins as “friend” of the UK Infantile Spasms Trust
Posted 21st May 2021

Dr Charles Steward joins as “friend” of the UK Infantile Spasms Trust

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Blog , poster , prenatal , INGENIOUS , NGS
Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS)
Posted 17th May 2021

Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS)

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Blog , Patient Advocacy , Champ1 , RareDiseases
Our CHAMP1 journey
Posted 14th May 2021

Our CHAMP1 journey

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Blog , Patient Advocacy , cerebral palsy
Dr Charles Steward elected to the ICPGC GC
Posted 11th May 2021

Dr Charles Steward elected to the ICPGC GC

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Blog , Patient Advocacy , genomics , SCN8A , Chapter 1
SCN8A – the needle in the haystack 
Posted 30th April 2021

SCN8A – the needle in the haystack 

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Blog , Clinical Cases , genomics
Exome analysis of cases with skeletal dysplasia
Posted 28th April 2021

Exome analysis of cases with skeletal dysplasia

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Blog , Clinical Cases , genomics
Automated variant classification workflows in a rare disease laboratory
Posted 28th April 2021

Automated variant classification workflows in a rare disease laboratory

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Blog , Patient Advocacy , epilepsy , genomics , Ring20 , Chapter 1
Redressing the balance: Ring Chromosome 20 Syndrome
Posted 16th April 2021

Redressing the balance: Ring Chromosome 20 Syndrome

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Blog , Patient Advocacy
Mutual Collaboration focus for CRDN Companies Forum
Posted 11th June 2021

Mutual Collaboration focus for CRDN Companies Forum

Read More
Blog , Patient Advocacy , epilepsy , cerebral palsy
Helping to Further the Patient Impact of Genomics
Posted June Jun 4th 2021

Helping to Further the Patient Impact of Genomics

Read More
Blog , Patient Advocacy , RareDiseases , Schinzel-Giedion Syndrome , Chapter 1
How Schinzel-Giedion Syndrome (SGS) has changed our lives
Posted May May 28th 2021

How Schinzel-Giedion Syndrome (SGS) has changed our lives

Read More
Blog , Patient Advocacy , epilepsy , RareDiseases , Chapter 8
Dr Charles Steward joins as “friend” of the UK Infantile Spasms Trust
Posted May May 21st 2021

Dr Charles Steward joins as “friend” of the UK Infantile Spasms Trust

Read More
Blog , poster , prenatal , INGENIOUS , NGS
Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS)
Posted May May 17th 2021

Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS)

Read More
Blog , Patient Advocacy , Champ1 , RareDiseases
Our CHAMP1 journey
Posted May May 14th 2021

Our CHAMP1 journey

Read More
Blog , Patient Advocacy , cerebral palsy
Dr Charles Steward elected to the ICPGC GC
Posted May May 11th 2021

Dr Charles Steward elected to the ICPGC GC

Read More
Blog , Patient Advocacy , genomics , SCN8A , Chapter 1
SCN8A – the needle in the haystack 
Posted April Apr 30th 2021

SCN8A – the needle in the haystack 

Read More
Blog , Clinical Cases , genomics
Exome analysis of cases with skeletal dysplasia
Posted April Apr 28th 2021

Exome analysis of cases with skeletal dysplasia

Read More
Blog , Clinical Cases , genomics
Automated variant classification workflows in a rare disease laboratory
Posted April Apr 28th 2021

Automated variant classification workflows in a rare disease laboratory

Read More
Blog , Patient Advocacy , epilepsy , genomics , Ring20 , Chapter 1
Redressing the balance: Ring Chromosome 20 Syndrome
Posted April Apr 16th 2021

Redressing the balance: Ring Chromosome 20 Syndrome

Read More
previous 1 ...
2 3 4 5 6
... 10 next
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