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Amudhavalli, Shivarajan Manickavasagam
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1

eP186: Novel SNRPE-related spliceosomopathy characterized b..:

Amudhavalli, Shivarajan Manickavasagam ; Lawson, Caitlin ; Paolillo, Vitoria...
Genetics in Medicine.  24 (2022)  3 - p. S115 , 2022
Link: https://doi.org/10.1016/..
 
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2

Occurrence and characterization of medulloblastoma in a pat..:

Porath, Binu ; Farooki, Sana ; Gener, Melissa...
Clinical Genetics.  97 (2019)  4 - p. 670-671 , 2019
Link: https://doi.org/10.1111/..
 
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Insurance denials and diagnostic rates in a pediatric genom..:

Zion, Tricia N. ; Berrios, Courtney D. ; Cohen, Ana S.A....
Genetics in Medicine.  25 (2023)  5 - p. 100020 , 2023
Link: https://doi.org/10.1016/..
 
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4

Heterozygous variants in ZBTB7A cause a neurodevelopmental ..:

von der Lippe, Charlotte ; Tveten, Kristian ; Prescott, Trine E....
American Journal of Medical Genetics Part A.  188 (2021)  1 - p. 272-282 , 2021
Link: https://doi.org/10.1002/..
 
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5

Phenotypic spectrum associated with SPECC1L pathogenic vari..:

Bhoj, Elizabeth J. ; Haye, Damien ; Toutain, Annick...
European Journal of Medical Genetics.  62 (2019)  12 - p. 103588 , 2019
Link: https://doi.org/10.1016/..
 
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6

HeterozygousHMGB1loss‐of‐function variants are associated w..:

Uguen, Kévin ; Krysiak, Kilannin ; Audebert‐Bellanger, Séverine...
Clinical Genetics.  100 (2021)  4 - p. 386-395 , 2021
Link: https://doi.org/10.1111/..
 
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