Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia
Somashekar, Puneeth H., Kaur, Parneet, Stephen, Joshi, Guleria, Vishal Singh, Kadavigere, Rajagopal, Girisha, Katta Mohan, Bielas, Stephanie, Upadhyai, Priyanka, Shukla, Anju
Published in Clinical genetics (01.04.2021)
Published in Clinical genetics (01.04.2021)
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The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila
Guleria, Vishal Singh, Parit, Rahul, Quadri, Neha, Das, Ranajit, Upadhyai, Priyanka
Published in Experimental cell research (15.09.2022)
Published in Experimental cell research (15.09.2022)
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Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro
Guleria, Vishal Singh, Quadri, Neha, Prasad, Keshava, Das, Ranajit, Upadhyai, Priyanka
Published in Molecular biology reports (01.12.2024)
Published in Molecular biology reports (01.12.2024)
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Journal Article
Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia
Somashekar, Puneeth H., Kaur, Parneet, Stephen, Joshi, Guleria, Vishal Singh, Kadavigere, Rajagopal, Girisha, Katta Mohan, Bielas, Stephanie, Upadhyai, Priyanka, Shukla, Anju
Published in Clinical genetics (01.04.2021)
Published in Clinical genetics (01.04.2021)
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Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature
Upadhyai, Priyanka, Amiri, Eram Fatima, Guleria, Vishal Singh, Bielas, Stephanie L, Girisha, Katta Mohan, Shukla, Anju
Published in Clinical dysmorphology (01.07.2020)
Published in Clinical dysmorphology (01.07.2020)
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