New finding from FranMartinezGr on Twitter/X! ift.tt/1Qx9cIZ
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension #RareDisease #Genetics #morbidgene #newphenotype t.co/io0RaIvLpR
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension #RareDisease #Genetics #morbidgene #newphenotype www.sciencedirect.com/science/arti...
New finding from FranMartinezGr on Twitter/X! ift.tt/r3Ncgsd
Patient-informed CRISPR Screen Identifies FLNB as a Congenital Heart Disease and Ciliopathy Gene #RareDisease #Genetics #newphenotype #morbidgene t.co/TxdAmauwI1
Patient-informed CRISPR Screen Identifies FLNB as a Congenital Heart Disease and Ciliopathy Gene #RareDisease #Genetics #newphenotype #morbidgene www.cell.com/hgg-advances...
New finding from JesicaMRamirez on Twitter/X!
RT @FranMartinezGr: Missense variants in TUBA4A cause myo-tubulinopathies #RareDisease #Genetics #morbidgene #newphenotype t.co/zID%E2%80%A6
New finding from FranMartinezGr on Twitter/X! ift.tt/lIH4hvB
Missense variants in TUBA4A cause myo-tubulinopathies #RareDisease #Genetics #morbidgene #newphenotype t.co/zIDMwrfqbb
Missense variants in TUBA4A cause myo-tubulinopathies #RareDisease #Genetics #morbidgene #newphenotype academic.oup.com/brain/advanc...
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis. #RareDisease #Genetics #morbidgene #newphenotype www.medrxiv.org/content/10.6...
New finding from FranMartinezGr on Twitter/X! ift.tt/9HpZCqN
Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy #RareDisease #Genetics #morbidgene #newphenotype …
Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy #RareDisease #Genetics #morbidgene #newphenotype www.medrxiv.org/content/10.6...
Establishment and functional studies of a model of cardiomyopathy with cardiomyocyte-specific conditional knockout of Arhgef18 #RareDisease #Genetics #morbidgene #newphenotype journals.biologists.com/dmm/article/...
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes #RareDisease #Genetics #morbidgene #newphenotype www.nature.com/articles/s41...
