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jsuk.org

JSUK

Welcome to JSUK an organisation for the parents and carers of children affected by Joubert Syndrome a rare genetic disorder.

http://www.jsuk.org/

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CONTACTS AT JSUK.ORG

Faith Douthwaite

Faith Douthwaite

17 Mon●●●●●● Mount

W.●●ks , WF81JG

GB

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fa●●●●@aol.com

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UK2.NET http://www.uk2.net/

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JSUK | jsuk.org Reviews
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Welcome to JSUK an organisation for the parents and carers of children affected by Joubert Syndrome a rare genetic disorder.
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1 what is joubert syndrome
2 joubert syndrome explainedjsuk
3 joubert syndrome
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5 jsuk.org
6 Cerebellar Disorders
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JSUK | jsuk.org Reviews

https://jsuk.org

Welcome to JSUK an organisation for the parents and carers of children affected by Joubert Syndrome a rare genetic disorder.

INTERNAL PAGES

jsuk.org jsuk.org
1

Notice Board

http://www.jsuk.org/index.php/notice-board

Our Syndrome. Your Information. Our best hope for finding new treatments and raising awareness. Is your participation in JS-LIFE, the JSRDF patient-centered registry. Whether you are affected, a caregiver, or related to someone who is or was affected, your information* could be the key. Please take a few moments to answer a few questions today. Only one survey is necessary per affected individual. Charity Funding and Aid. Attention Everyone In The Swimming Pool. Attention Everyone In The Swimming Pool.

2

Newly Diagnosed

http://www.jsuk.org/index.php/newly-diagnosed

Our Syndrome. Your Information. Our best hope for finding new treatments and raising awareness. Is your participation in JS-LIFE, the JSRDF patient-centered registry. Whether you are affected, a caregiver, or related to someone who is or was affected, your information* could be the key. Please take a few moments to answer a few questions today. Only one survey is necessary per affected individual. Charity Funding and Aid. Attention Everyone In The Swimming Pool. Attention Everyone In The Swimming Pool.

3

Enquire

http://www.jsuk.org/index.php/useful-links/support/54-enquire

Our Syndrome. Your Information. Our best hope for finding new treatments and raising awareness. Is your participation in JS-LIFE, the JSRDF patient-centered registry. Whether you are affected, a caregiver, or related to someone who is or was affected, your information* could be the key. Please take a few moments to answer a few questions today. Only one survey is necessary per affected individual. Charity Funding and Aid. Attention Everyone In The Swimming Pool. Attention Everyone In The Swimming Pool.

4

Links

http://www.jsuk.org/index.php/useful-links

Our Syndrome. Your Information. Our best hope for finding new treatments and raising awareness. Is your participation in JS-LIFE, the JSRDF patient-centered registry. Whether you are affected, a caregiver, or related to someone who is or was affected, your information* could be the key. Please take a few moments to answer a few questions today. Only one survey is necessary per affected individual. Charity Funding and Aid. Attention Everyone In The Swimming Pool. Attention Everyone In The Swimming Pool.

5

Seenin

http://www.jsuk.org/index.php/useful-links/equipment/132-seenin

Our Syndrome. Your Information. Our best hope for finding new treatments and raising awareness. Is your participation in JS-LIFE, the JSRDF patient-centered registry. Whether you are affected, a caregiver, or related to someone who is or was affected, your information* could be the key. Please take a few moments to answer a few questions today. Only one survey is necessary per affected individual. Charity Funding and Aid. Attention Everyone In The Swimming Pool. Attention Everyone In The Swimming Pool.

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autozygosity.org autozygosity.org

autozygosity.org: Blog

http://autozygosity.org/blog

Sir Jules Thorn International Resource for Autozygosity Mapping. Public and Patient Involvement Event (13th July 2011). Report on Public and Patient Involvement Event published in CLIMB. Article on Sir Jules Thorn Research project in Genetic Alliance UK, spring 2011 newsletter. pg 8. Genetic Alliance UK news letter. A resource for young people, adults and families affected by recessive inherited genetic conditions. Please visit Ciliopathy Alliance. For more information on ciliopathies and support groups.

nephrology.blueprintgenetics.com nephrology.blueprintgenetics.com

Genetic testing for Ciliopathies - Nephrology

http://nephrology.blueprintgenetics.com/panels/ciliopathy-panel

Blueprint Genetics - Nephrology including ciliopathies. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of ciliopathies. This comprehensive P...

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Our Syndrome. Your Information. Our best hope for finding new treatments and raising awareness. Is your participation in JS-LIFE, the JSRDF patient-centered registry. Whether you are affected, a caregiver, or related to someone who is or was affected, your information* could be the key. Please take a few moments to answer a few questions today. Only one survey is necessary per affected individual. Charity Funding and Aid. Attention Everyone In The Swimming Pool. August 2011 - Family Fun Day. Latest News ...

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