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1 . Academic Journal
Recent Advances in Imprinting Disorders
저자
by
Soellner, L.
;
Begemann, M.
;
Mackay, D.J.G.
;
Grønskov, K.
;
Tümer, Z.
, et al.
소스
Clinical Genetics
. Jan 01, 2017 91(1):3-13
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia
저자
by
Roos, L.
;
Fang, M.
;
Dali, C.
;
Jensen, H.
;
Christoffersen, N.
, et al.
소스
Clinical Genetics
. Sep 01, 2014 86(3):276-281
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
A novel founder BBS1 mutation explains a unique high prevalence of Bardet–Biedl syndrome in the Faroe Islands
저자
by
Hjortshøj, Duelund T
;
Grønskov, K
;
Brøndum-Nielsen, K
;
Rosenberg, T
.
소스
British Journal of Ophthalmology
. Mar 01, 2009 93(3):409-413
Full Text (BMJ Journals)
Web of Science
Scopus
JCR 저널정보
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6 .
Recent Advances in Imprinting Disorders
저자
by
Soellner, L.
;
Begemann, M.
;
Mackay, D. J. G.
;
Grønskov, K.
;
Tümer, Z.
, et al.
소스
Clinical genetics 91 (2016): 3–13. doi:10.1111/cge.12827
info:cnr-pdr/source/autori:Soellner L, Begemann M, Mackay DJ,
Grønskov
K
, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T./titolo:Recent Advances in Imprinting Disorders./doi:10.1111%2Fcge.12827/rivista:Clinical genetics/anno:2016/pagina_da:3/pagina_a:13/intervallo_pagine:3–13/volume:91
Open Access (OpenAIRE)
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7 . Academic Journal
Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations
저자
by
Grønskov, K.
;
Hallberg, Anni
;
Brøndum-Nielsen, Karen
.
소스
Human Genetics
. April 1998 102(4):440-445
Full Text (Springer)
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5 . Academic Journal
Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
저자
by
Eggermann, Thomas
;
Brioude, Frédéric
;
Russo, Silvia
;
Lombardi, Maria P
;
Bliek, Jet
, et al.
소스
European Journal of Human Genetics
. 24(6):784-793
Web of Science
Scopus
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7 . Academic Journal
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs
저자
by
Østergaard, E
;
Montserrat-Sentis, B
;
Grønskov, K
;
Brøndum-Nielsen, K
.
소스
Clinical Genetics
. Oct 01, 2002 62(4):303-305
Web of Science
Scopus
JCR 저널정보
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6 .
A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?
저자
by
Patrik Schatz
;
Bregnhøj J
;
Arvidsson H
;
Sharon D
;
Mizrahi-Meissonnier L
, et al.
소스
Molecular Vision
Scopus-Elsevier
Lund University
Europe PubMed Central
Open Access (OpenAIRE)
Web of Science
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7 . Academic Journal
Regarding the letter from Dr. Stephen T. Warren of the Emory University School of Medicine concerning our article “Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations”
저자
by
Grønskov, Karen
;
Brøndum-Nielsen, K.
.
소스
Human Genetics
. September 1998 103(3):366-366
Full Text (Springer)
Web of Science
Scopus
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4 .
Population-based risk estimates of Wilms tumor in sporadic aniridia
저자
by
Grønskov, K.
;
Olsen, J.H.
;
Sand, A.
;
Pedersen, W.
;
Carlsen, N.
.
소스
Grønskov
,
K
, Olsen, J H, Sand, A, Pedersen, W & Carlsen, N 2001, ' Population-based risk estimates of Wilms tumor in sporadic aniridia ', Human Genetics, vol. 109, pp. 11-18 .
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