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Smrithi Salian

Showing results (11-20 of 18) with videos related to

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European Journal of Human Genetics : EJHG|November 8, 2019
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GLEliane Beauregard-Lacroix, Smrithi Salian, Hyunyun Kim, et al.
American Journal of Human Genetics|August 22, 2020
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and EpilepsyJonathan Humbert, Smrithi Salian, Periklis Makrythanasis, et al.
Pediatric Neurology|April 16, 2025
Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGWNazim Rabouhi, Smrithi Salian, Hind Benkerroum, et al.
Neurology. Genetics|October 27, 2021
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in <i>GPAA1</i>Alison M R Castle, Smrithi Salian, Haim Bassan, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
European Journal of Human Genetics : EJHG|September 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probandsAllan Bayat, Maria Carla Borroto, Smrithi Salian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe DystoniaKimberley M Reid, Robert Spaull, Smrithi Salian, et al.
American Journal of Human Genetics|June 23, 2023
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humansLong Guo, Smrithi Salian, Jing-Yi Xue, et al.
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Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
European Journal of Human Genetics : EJHG|November 8, 2019
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GLEliane Beauregard-Lacroix, Smrithi Salian, Hyunyun Kim, et al.
American Journal of Human Genetics|August 22, 2020
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and EpilepsyJonathan Humbert, Smrithi Salian, Periklis Makrythanasis, et al.
Pediatric Neurology|April 16, 2025
Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGWNazim Rabouhi, Smrithi Salian, Hind Benkerroum, et al.
Neurology. Genetics|October 27, 2021
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in <i>GPAA1</i>Alison M R Castle, Smrithi Salian, Haim Bassan, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
European Journal of Human Genetics : EJHG|September 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probandsAllan Bayat, Maria Carla Borroto, Smrithi Salian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe DystoniaKimberley M Reid, Robert Spaull, Smrithi Salian, et al.
American Journal of Human Genetics|June 23, 2023
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humansLong Guo, Smrithi Salian, Jing-Yi Xue, et al.
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