Sort   by:  
 Page size 
UnknownGenetic studies of the Roma (Gypsies): a review.
Not available
S-EPMC31389 | biostudies-literature
UnknownCognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.
Not available
S-EPMC4427823 | biostudies-literature
UnknownA novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
Not available
S-EPMC1287526 | biostudies-literature
UnknownChallenges of diagnostic exome sequencing in an inbred founder population.
Not available
S-EPMC3865571 | biostudies-literature
UnknownDeleterious GRM1 mutations in schizophrenia.
Not available
S-EPMC3308973 | biostudies-literature
UnknownRefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization.
Not available
S-EPMC3072958 | biostudies-literature
TranscriptomicsTranscription profiling of human Schwann cells FROM HMSN1A, HMSN-LOM AND congenital cateracts facial dysmophism neuropathy (CCFDN) syndrome TO identify down-stream effects IN demyelinating neuropathies
Hereditary Motor and Sensory Neuropathies (HMSN) are the most common inherited peripheral neuropathies and comprise a group of genetically heterogeneous diseases. We study the genetic defects causing three demyelinating disorders: HMSN1A, HMSN-LOM and congenital cateracts facial dysmophism neuropath...
ORGANISM(S): Homo sapiens 
2008-04-05 | E-GEOD-7423 | biostudies-arrayexpress
UnknownN-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
Not available
S-EPMC1287101 | biostudies-literature
UnknownGenetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit.
Not available
S-EPMC1226211 | biostudies-literature
UnknownAutosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Not available
S-EPMC3511982 | biostudies-literature
Sort   by:  
 Page size