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1 . Academic Journal
Genetic testing users in Italy and Germany: Health orientation, health‐related habits, and psychological profile
저자
by
Giulia Ongaro
;
Eleonora Brivio
;
Clizia Cincidda
;
Serena Oliveri
;
Francesca Spinella
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)
Open Access (Wiley)
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Web of Science
Scopus
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7 . Academic Journal
Pharmacogenomics decision support in the U-PGx project: Results and advice from clinical implementation across seven European countries
저자
by
Kathrin Blagec
;
Jesse J. Swen
;
Rudolf Koopmann
;
Ka-Chun Cheung
;
Mandy Crommentuijn - van Rhenen
, et al.
소스
PLoS ONE, Vol 17, Iss 6 (2022)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
German and Italian Users of Web-Accessed Genetic Data: Attitudes on Personal Utility and Personal Sharing Preferences. Results of a Comparative Survey (n=192)
저자
by
Sabine Wöhlke
;
Manuel Schaper
;
Serena Oliveri
;
Ilaria Cutica
;
Francesca Spinella
, et al.
소스
Frontiers in Genetics, Vol 11 (2020)
Open Access (DOAJ)
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7 .
Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes
저자
by
Minna Brunfeldt
;
Harriet Teare
;
Daan Schuurbiers
;
Daniela Steinberger
;
Elianne Gerrits
, et al.
소스
Journal of community genetics, 13(2), 247-256. SPRINGER HEIDELBERG
Open Access (OpenAIRE)
Scopus
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7 .
Implementing pharmacogenomics decision support across seven European countries: The Ubiquitous Pharmacogenomics (U-PGx) project
저자
by
Matthias Samwald
;
Hong Xu
;
Inge Holsappel
;
Henk-Jan Guchelaar
;
Lidija Konta
, et al.
소스
Journal of the American Medical Informatics Association, 25(7), 893-898
Journal of the American Medical Informatics Association : JAMIA
Journal of the American Medical Informatics Association
Open Access (OpenAIRE)
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7 .
Osteogenesis Imperfecta type II with the variant c.4237G>A (p.Asp1413Asn) in COL1A1 in a dichorionic, diamniotic twin pregnancy
저자
by
Daniela Steinberger
;
Linda Novak
;
Anneke Wilhelm
;
Franz Bahlmann
.
소스
Case Reports in Perinatal Medicine
. 5:45-48
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6 .
Phenotype of five patients with dopa-responsive dystonia and mutations in GCH1
저자
by
Georg Heubner
;
Bernhard Kunath
;
Nenad Blau
;
Maja von der Hagen
;
Kerstin Neubert
, et al.
소스
Journal of Pediatric Neurology
. :083-087
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7 .
Monogen erbliche Formen des Diabetes mellitus – Genetische Diagnostik
저자
by
Daniela Steinberger
;
Gabriele Wildhardt
;
Albert Driesel
.
소스
Diabetes aktuell
. 12:366-371
Scopus
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5 .
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO
저자
by
Armand Bottani
;
Katarina Brennerova
;
Nyitrayova O
;
Clesson Turner
;
Leda Lotspeich-Cole
, et al.
소스
Human Mutation
Open Access (OpenAIRE)
Scopus
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7 .
Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain
저자
by
G. Wildhardt
;
Gudrun A. Rappold
;
Jianjun Chen
;
J. Decker
;
Werner F. Blum
, et al.
소스
Journal of Medical Genetics
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