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11 . Academic Journal
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.
저자
by
Costa, Alessia
;
Franková, Věra
;
Robert, Glenn
;
Macek, Milan
;
Patch, Christine
, et al.
소스
Journal of Community Genetics; Jun2022, Vol. 13 Issue 3, p313-327, 15p
Scopus
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17 . Academic Journal
Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant.
저자
by
Schwarz, Martin
;
Ryba, Lukáš
;
Křepelová, Anna
;
Moslerová, Veronika
;
Zelinová, Michaela
, et al.
소스
American Journal of Medical Genetics. Part A; Apr2022, Vol. 188 Issue 4, p1083-1087, 5p
Web of Science
Scopus
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17 . Academic Journal
Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes
저자
by
Hancarova, Miroslava
;
Simandlova, Martina
;
Drabova, Jana
;
Petrak, Borivoj
;
Koudova, Monika
, et al.
소스
In
European Journal of Medical Genetics
March 2013 56(3):171-173
Full Text (ScienceDirect)
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17 . Academic Journal
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
저자
by
Čopíková, Jana
;
Paděrová, Jana
;
Románková, Věra
;
Havlovicová, Markéta
;
Balaščáková, Miroslava
, et al.
소스
Annals of Human Genetics
. Sep2020, Vol. 84 Issue 5, p380-392. 13p.
Web of Science
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17 .
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
저자
by
Yaldiz, Burcu
;
Kucuk, Erdi
;
Hampstead, Juliet
;
Hofste, Tom
;
Pfundt, Rolph
, et al.
소스
Open Access (OpenAIRE)
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17 . Periodical
The clinical significance of A2ML1variants in Noonan syndrome has to be reconsidered
저자
by
Brinkmann, Julia
;
Lissewski, Christina
;
Pinna, Valentina
;
Vial, Yoann
;
Pantaleoni, Francesca
, et al.
소스
European Journal of Human Genetics: EJHG; March 2021, Vol. 29 Issue: 3 p524-527, 4p
Web of Science
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17 . Academic Journal
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
저자
by
Smith, Michael
;
Alexander, Elizabeth
;
Marcinkute, Ruta
;
Dan, Dorica
;
Rawson, Myfanwy
, et al.
소스
Orphanet Journal of Rare Diseases
. 4/25/2020, Vol. 15 Issue 1, p1-11. 11p.
Open Access (BioMed Central)
Web of Science
Scopus
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17 . Academic Journal
Mezioborová spolupráce při stomatologickém ošetření pacientů se vzácným onemocnĕním - Kabuki syndrom. (Czech)
저자
by
Pečenka, Jiří
;
Ambrožová, Radana
;
Dostálová, Tatjána
;
Havlovicová, Markéta
.
소스
LKS; 2019, Issue 12, p1-10, 10p
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16 . Academic Journal
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.
저자
by
Hancarova, Miroslava
;
Havlovicova, Marketa
;
Putzova, Martina
;
Vseticka, Jan
;
Prchalova, Darina
, et al.
소스
American Journal of Medical Genetics. Part A; Oct2019, Vol. 179 Issue 10, p2119-2123, 5p
Web of Science
Scopus
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17 . Academic Journal
Specifika informovaného souhlasu v klinické genetice a genetickém poradenství. (Czech)
저자
by
Havlovicová, Markéta
;
Curtisová, Václava
;
Šubrt, Ivan
.
소스
Journal of Czech Physicians / Časopis Lékařů Českých; 2019, Vol. 158 Issue 1, p38-43, 6p
Scopus
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