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Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up

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1. Vibhor 24 Jun 2026
  
  in read_only_demo_group
  
  Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up
  
  General Gene:PIK3R1 HGNC:8979 PMID:33742773 Disease: SHORT syndrome InheritancePattern: uncertain (adopted) Prevalence: Not specified Penetrance: Not assessed in this article Ab Deficiencies VCEP
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Prevalence: Not specified

Disease: SHORT syndrome

Ab Deficiencies VCEP

General

Penetrance: Not assessed in this article

InheritancePattern: uncertain (adopted)

HGNC:8979

Gene:PIK3R1

PMID:33742773

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Vibhor

URL

pmc.ncbi.nlm.nih.gov/articles/PMC8504897/
Sep 2020
www.tandfonline.com www.tandfonline.com

Editorial

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1. ErikStuchly 04 Sep 2020
  
  in BehSci
  
  Beest, I. van. (2020). Editorial. Social Influence, 0(0), 1–3. https://doi.org/10.1080/15534510.2020.1783758
  
  is:article lang:en short article behavioral observation social influence registered report proof of concept transparency work-life balance editorial
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social influence

transparency

short article

proof of concept

registered report

is:article

behavioral observation

work-life balance

editorial

lang:en

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ErikStuchly

URL

tandfonline.com/doi/full/10.1080/15534510.2020.1783758