Joubert syndrome - PDFSEARCH.IO - Document Search Engine

Joubert syndrome
Results: 15

#	Item
1	Clinical utility gene card for: Meckel syndrome Add to Reading List Source URL: www.nature.com Language: English - Date: 2011-06-16 02:14:34 Neurological disorders Rare diseases Syndromes Meckel syndrome Nephrology Joubert syndrome TMEM216 MKS1 Genetic testing Health Ciliopathy Medicine
2	Scientists use next-gen sequencing to rapidly discover genetic cause of devastating disorder Add to Reading List Source URL: phys.org Language: English - Date: 2015-02-25 18:14:51 Molecular biology DNA sequencing Exome sequencing Exome Dor Yeshorim Genetic testing Joubert syndrome Genetic screen Mutation Biology Genetics Medical genetics
3	3_Established_Conditions_list Add to Reading List Source URL: www.floridahealth.gov Language: English - Date: 2014-12-05 12:18:12 Miller–Dieker syndrome Aicardi syndrome Joubert syndrome Trisomy 8 Lissencephaly Pachygyria Down syndrome Noonan syndrome Patau syndrome Health Syndromes Walker–Warburg syndrome
4	c Indian Academy of Sciences REVIEW ARTICLE RPGR-containing protein complexes in syndromic and non-syndromic Add to Reading List Source URL: www.ias.ac.in Language: English - Date: 2009-12-31 06:26:34 Ciliopathy Organelles Retinal Degeneration Retinitis pigmentosa Syndromes Joubert syndrome Axoneme Bardet–Biedl syndrome Electroretinography Health Biology Ophthalmology
5	W HIT E PA PE R Identify a genetic disorder with HGMD® We are entering a new era of genetic counseling and medical care. Next Generation Sequencing (“NGS”) technology provides the ability to establish a causal Add to Reading List Source URL: www.biobase-international.com Language: English - Date: 2012-08-14 11:18:49 Molecular biology Genomics Channelopathy Ciliopathy Exome sequencing Retinitis pigmentosa Joubert syndrome Nephronophthisis Full genome sequencing Biology Genetics Health
6	Molecular Genetics and Metabolism[removed]–53 www.elsevier.com/locate/ymgme Minireview Human malformations of the midbrain and hindbrain: review Add to Reading List Source URL: www.dandy-walker.org Language: English - Date: 2012-05-27 14:58:16 Cerebellum Syndromes Cerebellar vermis Neurological disorders Congenital disorders Central nervous system Arnold–Chiari malformation Cerebellar hypoplasia Joubert syndrome Health Anatomy Biology
7	This article appeared in a journal published by Elsevier. The attached copy is furnished to the author for internal non-commercial research and education use, including for instruction at the authors institution and shar Add to Reading List Source URL: www.dandy-walker.org Language: English - Date: 2012-05-27 14:58:15 Nervous system Cerebellar vermis Purkinje cell External granular layer Joubert syndrome Cerebellar hypoplasia Granule cell Dandy–Walker syndrome Deep cerebellar nuclei Cerebellum Anatomy Biology
8	Joubert Syndrome & Related Disorders Foundation www.jsrdf.org Business Office 1415 West Avenue Cincinnati, OH[removed]removed] Add to Reading List Source URL: www.jsrdf.org Language: English - Date: 2014-02-23 19:39:54 Fundraising Joubert syndrome Fundraiser 501(c) organization Charitable organization Foundation Donation Economics Structure Health Nonprofit organization
9	Joubert Syndrome Causative Gene List JBTS1. JBTS2. JBTS3. JBTS4. JBTS5. Add to Reading List Source URL: www.jsrdf.org - Date: 2014-07-02 21:45:53
10	Genetics Overview The concept of Genetics can often be overwhelming for new families receiving a diagnosis of Joubert syndrome or a related disorder (JSRD). This information is often discussed at a time when families are Add to Reading List Source URL: www.jsrdf.org Language: English - Date: 2013-06-04 20:05:07 Cytogenetics Evolutionary biology Epigenetics Chromosome Y chromosome DNA X chromosome Gene Mutation Biology Genetics Philosophy of biology