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1 . Academic Journal
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
저자
by
Cooray, Samantha
;
Price-Kuehne, Fiona
;
Ying Hong
;
Omoyinmi, Ebun
;
Burleigh, Alice
, et al.
소스
Frontiers in Immunology; 2023, p01-16, 16p
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7 . Academic Journal
Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.
저자
by
Saracino, Amanda M.
;
Kelberman, Daniel
;
Otto, Georg W.
;
Gagunashvili, Andrey
;
Abraham, David J.
, et al.
소스
Archives of Dermatological Research
. Sep2023, Vol. 315 Issue 7, p2035-2056. 22p.
Web of Science
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7 . Academic Journal
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
저자
by
McGlacken-Byrne, Sinéad M.
;
Le Quesne Stabej, Polona
;
Del Valle, Ignacio
;
Ocaka, Louise
;
Gagunashvili, Andrey
, et al.
소스
Journal of Clinical Endocrinology & Metabolism; Jan2022, Vol. 107 Issue 1, pe254-e263, 10p
Full Text (OUP)
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7 . Periodical
ZSWIM7Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency
저자
by
McGlacken-Byrne, Sinéad M
;
Le Quesne Stabej, Polona
;
Del Valle, Ignacio
;
Ocaka, Louise
;
Gagunashvili, Andrey
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism; January 2022, Vol. 107 Issue: 1 pe254-e263, 10p
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7 . Academic Journal
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
저자
by
Gualtieri, Angelica
;
Kyprianou, Nikolina
;
Gregory, Louise C.
;
Vignola, Maria Lillina
;
Nicholson, James G.
, et al.
소스
Nature Communications; 4/1/2021, Vol. 12 Issue 1, p1-18, 18p
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7 . Academic Journal
Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.
저자
by
Cerbone, Manuela
;
Clement, Emma
;
McClatchey, Martin
;
Dobbin, Joanna
;
Gilbert, Clare
, et al.
소스
Hormone Research in Paediatrics
. 2019, Vol. 92 Issue 1, p64-70. 7p. 1 Color Photograph, 1 Chart, 1 Graph.
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7 . Academic Journal
Rapid Paediatric Sequencing (RAPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
저자
by
Mestek-Boukhibar, Lamia
;
Clement, Emma
;
Jones, Wendy D.
;
Drury, Suzanne
;
Ocaka, Louise
, et al.
소스
Journal of Medical Genetics; Nov2018, Vol. 55 Issue 11, p721-728, 8p
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7 .
Additional file 2 of Distinctive characters of Nostoc genomes in cyanolichens
저자
by
Gagunashvili, Andrey
;
ĂLafur AndrĂŠsson
.
소스
Open Access (OpenAIRE)
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4 . Academic Journal
MAKING A RAPID GENETIC DIAGNOSIS IN A NEONATE WITH ANURIC RENAL FAILURE
저자
by
Besouw, Martine
;
Beales, Philip
;
Bockenhauer, Detlef
;
Boukhibar, Lamia
;
Gagunashvili, Andrey
, et al.
소스
PEDIATRIC NEPHROLOGY
; SEP 2017, 32 9, p1766-p1766, 1p.
Scopus
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