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Smrithi Salian

Showing results (1-10 of 18) with videos related to

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Indian Journal of Dermatology|March 9, 2016
Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital IchthyosisSmrithi Salian, Ashish Gupta, Anju Shukla, et al.
Congenital Anomalies|April 29, 2018
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotypeSmrithi Salian, Sheela Nampoothiri, Anju Shukla, et al.
Journal of Pediatric Genetics|August 11, 2017
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in <i>IHH</i> GeneSmrithi Salian, Anju Shukla, Gen Nishimura, et al.
Indian Journal of Dermatology|December 2, 2016
Focal Dermal Hypoplasia with a <i>De novo</i> Mutation p.E300* of <i>PORCN</i> Gene in a Male InfantSwathi Sunil Rao, Rathika D Shenoy, Smrithi Salian, et al.
Congenital Anomalies|September 15, 2016
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1Shalini S Nayak, Smrithi Salian, Anju Shukla, et al.
American Journal of Medical Genetics. Part A|June 26, 2015
Familial 7q11.23 duplication with variable phenotypeSiddaramappa J Patil, Smrithi Salian, Venkaraman Bhat, et al.
Human Genetics|February 2, 2022
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contracturesSmrithi Salian, Xin-Yu Guo, Yoshiko Murakami, et al.
Journal of Pediatric Genetics|February 15, 2018
Pycnodysostosis: Novel Variants in <i>CTSK</i> and Occurrence of Giant Cell TumorArya Shambhavi, Smrithi Salian, Hitesh Shah, et al.
American Journal of Medical Genetics. Part A|January 28, 2017
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutationsSmrithi Salian, Tae-Joon Cho, Shubha R Phadke, et al.
Human Genetics|January 2, 2021
PIGF deficiency causes a phenotype overlapping with DOORS syndromeSmrithi Salian, Hind Benkerroum, Thi Tuyet Mai Nguyen, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Indian Journal of Dermatology|March 9, 2016
Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital IchthyosisSmrithi Salian, Ashish Gupta, Anju Shukla, et al.
Congenital Anomalies|April 29, 2018
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotypeSmrithi Salian, Sheela Nampoothiri, Anju Shukla, et al.
Journal of Pediatric Genetics|August 11, 2017
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in <i>IHH</i> GeneSmrithi Salian, Anju Shukla, Gen Nishimura, et al.
Indian Journal of Dermatology|December 2, 2016
Focal Dermal Hypoplasia with a <i>De novo</i> Mutation p.E300* of <i>PORCN</i> Gene in a Male InfantSwathi Sunil Rao, Rathika D Shenoy, Smrithi Salian, et al.
Congenital Anomalies|September 15, 2016
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1Shalini S Nayak, Smrithi Salian, Anju Shukla, et al.
American Journal of Medical Genetics. Part A|June 26, 2015
Familial 7q11.23 duplication with variable phenotypeSiddaramappa J Patil, Smrithi Salian, Venkaraman Bhat, et al.
Human Genetics|February 2, 2022
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contracturesSmrithi Salian, Xin-Yu Guo, Yoshiko Murakami, et al.
Journal of Pediatric Genetics|February 15, 2018
Pycnodysostosis: Novel Variants in <i>CTSK</i> and Occurrence of Giant Cell TumorArya Shambhavi, Smrithi Salian, Hitesh Shah, et al.
American Journal of Medical Genetics. Part A|January 28, 2017
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutationsSmrithi Salian, Tae-Joon Cho, Shubha R Phadke, et al.
Human Genetics|January 2, 2021
PIGF deficiency causes a phenotype overlapping with DOORS syndromeSmrithi Salian, Hind Benkerroum, Thi Tuyet Mai Nguyen, et al.
Pageof 2