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@GuillermoAntiog
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Germline De Novo Alterations of RUNX1T1 in Individuals with Neurodevelopmental and Congenital Anomalies #RareDisease #Genetics #morbidgene cell.com/hgg-advances/f…
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias #RareDisease #Genetics #morbidgene academic.oup.com/hmg/advance-ar…
AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/cg…
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome #RareDisease #Genetics #morbidgene medrxiv.org/content/10.110…
Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders #RareDisease #Genetics sciencedirect.com/science/articl…
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration #RareDisease #Genetics nature.com/articles/s4152…
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia #RareDisease #Genetics #morbidgene nature.com/articles/s4143…
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome #RareDisease #Genetics #morbidgene nature.com/articles/s1003…
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities #RareDisease #Genetics #morbidgene nature.com/articles/s4152…
CUL3-Related Neurodevelopmental Disorder: Clinical Phenotype of 20 New Individuals and Identification of a Potential Phenotype-Associated Episignature #RareDisease #Genetics cell.com/hgg-advances/f…
Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder #RareDisease #Genetics #morbidgene medrxiv.org/content/10.110…
RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome. #RareDisease #Genetics cell.com/hgg-advances/f…
Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification #RareDisease #Genetics #morbidgene cell.com/hgg-advances/f…
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia #RareDisease #Genetics #morbidgene cell.com/ajhg/fulltext/…
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources #RareDisease #Genetics link.springer.com/article/10.100…
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy #RareDisease #Genetics link.springer.com/article/10.100…
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features #RareDisease #Genetics #morbidgene link.springer.com/article/10.100…
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations #RareDisease #Genetics nature.com/articles/s4143…
Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK) #RareDisease #Genetics sciencedirect.com/science/articl…
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Who to follow
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Guillermo Antiñolo
@GuillermoAntiog -
Ulrich
@logspace -
Pediatría, Infecciosas y Tropicales. H. La Paz
@PediatriaLa -
Christian Schaaf
@cpschaaf -
ClinGenetNews
@ClinGenetNews -
Dania
@dania_hammadi -
Pyrenees Stage Run
@PyrStageRun -
Andreas Haag
@DocAndreasHaag -
GaragArt
@GaragArt -
Reza and Nasim Bekheirnia
@RBekheirnia
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