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1 . Academic Journal
Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations
저자
by
Niina Sandholm
;
Ronja Hotakainen
;
Jani K. Haukka
;
Fanny Jansson Sigfrids
;
Emma H. Dahlström
, et al.
소스
Genome Medicine, Vol 14, Iss 1, Pp 1-18 (2022)
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7 .
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
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by
Aida Bertoli-Avella
;
Ronja Hotakainen
;
Maryam Al Shehhi
;
Alice Urzi
;
Catarina Pareira
, et al.
소스
Journal of Medical Genetics, 59, 993-1001
Journal of Medical Genetics, 59, 10, pp. 993-1001
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7 .
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
저자
by
Brahim Tabarki
;
Malak Alghamdi
;
Fuad Al Mutairi
;
Arndt Rolfs
;
Zuhair N. Al-Hassnan
, et al.
소스
Genetics in Medicine
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7 .
An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the
OTUD5
gene
저자
by
Abdul Halim Kassim
;
Erina Sasaki
;
Arndt Rolfs
;
Ronja Hotakainen
;
Peter Bauer
, et al.
소스
Clinical Genetics
. 99:303-308
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7 .
Novel protein-altering variants associated with serum apolipoprotein and lipid levels
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by
Aarno Palotie
;
A. Antikainen
;
Erkka Valo
;
Per-Henrik Groop
;
Niina Sandholm
, et al.
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