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1 . Academic Journal
Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.
저자
by
Lühmann, Jonathan Lukas
;
Schmidt, Gunnar
;
Auber, Bernd
;
Bergmann, Anke Katharina
;
Brandau, Oliver
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2023, Vol. 191 Issue 7, p1849-1857, 9p
Web of Science
Scopus
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7 . Periodical
Bi-allelic loss-of-function variants in KIF21Acause severe fetal akinesia with arthrogryposis multiplex
저자
by
Falb, Ruth J
;
Mu¨ller, Amelie J
;
Klein, Wolfram
;
Grimmel, Mona
;
Grasshoff, Ute
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 1 p48-56, 9p
Full Text (BMJ Journals)
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7 . Academic Journal
Is Fetal Hydrops in Turner Syndrome a Risk Factor for the Development of Maternal Mirror Syndrome?
저자
by
Bedei, Ivonne Alexandra
;
Graf, Alexander
;
Gloning, Karl-Philipp
;
Meyer-Wittkopf, Matthias
;
Willner, Daria
, et al.
소스
Journal of Clinical Medicine
. Aug2022, Vol. 11 Issue 15, p4588-4588. 8p.
Web of Science
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7 . Academic Journal
Relationships and distinctions in iron-regulatory networks responding to interrelated signals
저자
by
Muckenthaler, Martina
;
Richter, Alexandra
;
Gunkel, Niki
;
Riedel, Dieter
;
Polycarpou-Schwarz, Maria
, et al.
소스
In
Blood
1 May 2003 101(9):3690-3698
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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7 . Periodical
Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’
저자
by
Forzano, Francesca
;
Antonova, Olga
;
Clarke, Angus
;
de Wert, Guido
;
Hentze, Sabine
, et al.
소스
European Journal of Human Genetics: EJHG; March 2023, Vol. 31 Issue: 3 p279-281, 3p
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7 . Academic Journal
Hereditary hyperferritinaemia-cataract syndrome (HHCS) – an underestimated condition: ferritin light chain variant spectrum in German families
저자
by
Volkmann, Martin
;
Richter, Rudolf
;
Herrmann, Thomas
;
Hentze, Sabine
;
Hör, Michaela
, et al.
소스
Clinical Chemistry and Laboratory Medicine (CCLM)
. 57(12):1837-1845
Full Text(De Gruyter)
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7 . Academic Journal
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
저자
by
Forzano, Francesca
;
Antonova, Olga
;
Clarke, Angus
;
de Wert, Guido
;
Hentze, Sabine
, et al.
소스
European Journal of Human Genetics
. 30(5):493-495
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7 . Periodical
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
저자
by
de Wert, Guido
;
Dondorp, Wybo
;
Clarke, Angus
;
Dequeker, Elisabeth M. C.
;
Cordier, Christophe
, et al.
소스
European Journal of Human Genetics: EJHG; March 2021, Vol. 29 Issue: 3 p365-377, 13p
Web of Science
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7 . Periodical
Web-based return of BRCA2research results: one-year genetic counselling experience in Iceland
저자
by
Stefansdottir, Vigdis
;
Thorolfsdottir, Eirny
;
Hognason, Hakon B.
;
Patch, Christine
;
van El, Carla
, et al.
소스
European Journal of Human Genetics: EJHG; December 2020, Vol. 28 Issue: 12 p1656-1661, 6p
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7 . Academic Journal
Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’
저자
by
Forzano, Francesca
;
Antonova, Olga
;
Clarke, Angus
;
de Wert, Guido
;
Hentze, Sabine
, et al.
소스
European Journal of Human Genetics
. 31(3):368-368
Web of Science
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