Homozygosity mapping of a third Joubert syndrome locus to 6q23 [PDF]
, 2004 Clotilde Lagier‐Tourenne +6 more
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Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome [PDF]
, 2005 Boris Utsch +7 more
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The Reverse Representation Problem [PDF]
arXivCayley's theorem tells us that all groups $\mathbf{G}$ occur as subgroups of the group of automorphisms over some set $X$. In this paper we consider a `sort-of' converse to this question: given a set $X$ and some transformation group $\mathbf{S}$ over $X$, what are the possible group structures on $X$ that result in groups represented by $\mathbf{S ...
arxiv
Genetic complexity in Joubert syndrome and related disorders [PDF]
, 2007 Peter C. Harris
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Uner Tan Syndrome: History, Clinical Evaluations, Genetics, and the\ud Dynamics of Human Quadrupedalism [PDF]
, 2010 : This review includes for the first time a dynamical systems analysis of human quadrupedalism in Uner Tan syndrome, which is characterized by habitual quadrupedalism, impaired intelligence, and rudimentary speech.
Tan, Prof. Dr. Uner
core
Genetic Varieties of Jouberts Syndrome
Pediatric Neurology Briefs, 2005 Four families with linkage to two loci for Jouberts syndrome (JS), JBTS1 or JBTS2, and clinical and radiographic correlations for 4 known genetic causes of JS-related disorders (JSRD) are described in a report from University of California-San Diego, La Jolla, CA, and centers in Europe and the Middle East.
openaire +3 more sources
Estimating detector error models from syndrome data [PDF]
arXivProtecting quantum information using quantum error correction (QEC) requires repeatedly measuring stabilizers to extract error syndromes that are used to identify and correct errors. Syndrome extraction data provides information about the processes that cause errors.
arxiv
The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism. [PDF]
, 2006 Causes and contributing factors for autism are poorly understood. Evidence suggests that prevalence is rising, but the extent to which diagnostic changes and improvements in ascertainment contribute to this increase is unclear.
Croen, Lisa A +5 more
core +1 more source
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome [PDF]
, 2008 Vincent Cantagrel +24 more
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Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies [PDF]
, 2008 Jennifer Doering +10 more
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