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1 . Academic Journal
Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene
저자
by
Olaug K. Rødningen
;
Serena Tonstad
;
Jheem D. Medh
;
David A. Chappell
;
Leiv Ose
, et al.
소스
Journal of Lipid Research, Vol 40, Iss 2, Pp 213-220 (1999)
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7 .
Psychiatric assessment in Phelan-McDermid Syndrome (22q13 deletion syndrome)
저자
by
Kathrine Bjørgo
;
Olaug K. Rødningen
;
Anne Lise Enger Nilssen
;
Sissel Berge Helverschou
;
Arvid Nikolai Kildahl
, et al.
소스
Journal of Intellectual & Developmental Disability
. 45:54-58
Web of Science
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7 .
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction
저자
by
Robert Lyle
;
Hanne Sørmo Sorte
;
Richard A. Gibbs
;
Paul Hoff Backe
;
Zeynep Coban Akdemir
, et al.
소스
Molecular Genetics & Genomic Medicine
Open Access (Wiley)
Open Access (OpenAIRE)
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7 .
Homocarnosinosis: A historical update and findings in the SPG11 gene
저자
by
Chantal M. E. Tallaksen
;
Jeanette Koht
;
O Sjaastad
;
V Peters
;
Olaug K. Rødningen
, et al.
소스
Acta neurologica Scandinavica
. 138(3)
Scopus
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7 .
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in
ACVRL1
저자
by
Sinan Dheyauldeen
;
Olaug K. Rødningen
;
Ketil Heimdal
;
Mari Ann Kulseth
;
T. Røysland
, et al.
소스
Clinical Genetics
. 89:182-186
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7 .
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL 7 R detected by tandem whole exome sequencing and chromosomal microarray
저자
by
Victor Wei Zhang
;
Ian M. Campbell
;
Y. Yang
;
Sherif R. Zaki
;
Mei W. Baker
, et al.
소스
Clinical and Experimental Immunology
. 178:459-469
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7 .
Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report
저자
by
Kathrine Bjørgo
;
Olaug K. Rødningen
;
Jannicke H Andresen
;
Guro Reinholt Melum
;
Carina Schinagl
.
소스
Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-4 (2017)
Journal of Medical Case Reports
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7 .
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
저자
by
Mohammad K. Eldomery
;
Olaug K. Rødningen
;
Cecilia Poli
;
Debra Canter
;
Berit Flatø
, et al.
소스
The Journal of allergy and clinical immunology, vol 139, iss 1
Open Access (OpenAIRE)
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7 .
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
저자
by
Olaug K. Rødningen
;
Lisa R. Forbes
;
Hanne Sørmo Sorte
;
I. Celine Hanson
;
Hans Christian Erichsen
, et al.
소스
The American Journal of Human Genetics
. 95:96-107
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7 .
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability
저자
by
Gyri Aasland Gradek
;
Olaug K. Rødningen
;
Bjørn Ivar Haukanes
;
Atle Brendehaug
;
Gunnar Helland
, et al.
소스
American Journal of Medical Genetics. Part A, 164, 7, pp. 1622-6
American Journal of Medical Genetics. Part A, 164, 1622-6
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