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/vufind/Search/Results?lookfor=%22SHORT+syndrome%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
/vufind/Search/Results?lookfor=%22SHORT+syndrome%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
Search /vufind/Search2/Results?lookfor=%22SHORT+syndrome%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
PubPharm (46)
1
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant
enthalten in:
bioRxiv : the preprint server for biology
| 2023
von
Tomlinson, P.
|
Knox, R.
|
Perisic, O.
| +4
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2
SHORT syndrome with microcephaly and developmental delay
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Patel, V.
|
Cui, W.
|
Cobben, J.
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3
SHORT Syndrome : an Update on Pathogenesis and Clinical Spectrum
enthalten in:
Current diabetes reports
| 2022
von
Shvalb, N.
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4
SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum
enthalten in:
Current diabetes reports
| 2022
von
Shvalb, N.
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5
SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum
enthalten in:
Current diabetes reports
| 2022
von
Shvalb, N.
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6
SHORT Syndrome : Systematic Appraisal of the Medical and Dental Phenotype
enthalten in:
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
| 2022
von
Mubeen, S.
|
Gibson, C.
|
Mubeen, R.
| +2
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7
SHORT syndrome in an adult Brazilian patient
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Gonçalves, A.
|
Moretti, P.
|
Cordoba, M.
| +6
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8
Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance
enthalten in:
Allergologia et immunopathologia
| 2022
von
Szczawińska-Popłonyk, A.
|
Bernat-Sitarz, K.
|
Schwartzmann, E.
| +2
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9
Novel PIK3R1 mutation of SHORT syndrome : A case report with a 6-month follow up
enthalten in:
Journal of diabetes investigation
| 2021
von
Yin, X.
|
Liu, J.
|
Feng, R.
| +2
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10
The first SHORT syndrome in a Taiwanese boy : A case report and review of the literature
enthalten in:
Molecular genetics and metabolism reports
| 2021
von
Lee, C.
|
Chuang, C.
|
Chiu, H.
| +5
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Journal of clinical immunology
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1
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Alle anzeigen ...
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Thema
45
SHORT syndrome
18
Journal Article
16
PIK3R1
13
Case Reports
12
EC 2.7.1.137
11
Class Ia Phosphatidylinositol 3-Kinase
10
EC 2.7.1.-
9
PIK3R1 protein, human
9
short stature
8
Research Support, Non-U.S. Gov't
7
insulin resistance
6
Insulin resistance
6
Metformin
6
Review
5
PI3K
5
PIK3R1 gene
4
APDS
4
Case report
4
Class I Phosphatidylinositol 3-Kinases
4
Hyper IgM syndrome
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Erscheinungszeitraum
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2020-
16
2010-2019
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45
Englisch
1
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