Suchergebnisse - "PIK3R1 gene"

PubPharm (10)

1

A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels : A case report

enthalten in: Molecular genetics & genomic medicine | 2023

von Wilke, M. | Schimmenti, L. | Lopour, M. | +2

2

A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report

in: Molecular Genetics & Genomic Medicine | 2023

von Matheus V. M. B. Wilke | Lisa Schimmenti | Madeline Q. R. Lopour | +2

3

Activated phosphoinositide 3-kinase delta syndrome in a Portuguese teenager with PIK3R1 variant, a case report

in: International Journal of Medical Reviews and Case Reports | 2022

von Lorena Stella | Mariana Sá Pinto | Eduarda Ferreira | +3

4

PHLPP2 gene L1016S (rs61733127) and PIK3R1 gene Met326Ile (rs3730089) polymorphisms are associated with the risk of colon and breast cancers

enthalten in: Nucleosides, nucleotides & nucleic acids | 2021

von Daneshvar, G. | Boostani, S. | Moghanibashi, M. | +1

5

Transient Neonatal Diabetes Mellitus in SHORT Syndrome : A Case Report

enthalten in: Frontiers in pediatrics | 2021

von Kim, S. | Kim, M. | Yim, J. | +2

6

Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report

in: Frontiers in Pediatrics | 2021

von Shin-Hee Kim | Minsung Kim | Jisook Yim | +4

7

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease : a case report and review of literature

enthalten in: BMC medical genetics | 2020

von Sun, L. | Zhang, Q. | Li, Q. | +6

8

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

in: BMC Medical Genetics | 2020

von Liying Sun | Qianwen Zhang | Qun Li | +6

9

PIK3R1 gene polymorphisms are associated with type 2 diabetes and related features in the Turkish population

enthalten in: Advances in clinical and experimental medicine : official organ Wroclaw Medical University | 2018

von Karadoğan, A. | Arikoglu, H. | Göktürk, F. | +2

10

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations : toward recommendation for molecular testing and management

enthalten in: Clinical genetics | 2016

von Avila, M. | Dyment, D. | Sagen, J. | +42

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