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1 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
Scopus
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7 . Academic Journal
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
저자
by
Hall, Hildegard Nikki
;
Parry, David
;
Halachev, Mihail
;
Williamson, Kathleen A.
;
Donnelly, Kevin
, et al.
소스
Journal of Medical Genetics; Mar2024, Vol. 61 Issue 3, p250-261, 12p
Full Text (BMJ Journals)
Scopus
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7 . Periodical
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
저자
by
Lacombe, Didier
;
Bloch-Zupan, Agnès
;
Bredrup, Cecilie
;
Cooper, Edward B
;
Houge, Sofia Douzgou
, et al.
소스
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 6 p503-519, 17p
Full Text (BMJ Journals)
Scopus
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7 . Academic Journal
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
저자
by
Solaki, Maria
;
Baumann, Britta
;
Reuter, Peggy
;
Andreasson, Sten
;
Audo, Isabelle
, et al.
소스
Human Mutation; Jul2022, Vol. 43 Issue 7, p832-858, 27p
Scopus
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7 . Periodical
Confirmation of FZD5implication in a cohort of 50 patients with ocular coloboma
저자
by
Aubert-Mucca, Marion
;
Pernin-Grandjean, Julie
;
Marchasson, Sébastien
;
Gaston, Veronique
;
Habib, Christophe
, et al.
소스
European Journal of Human Genetics: EJHG; January 2021, Vol. 29 Issue: 1 p131-140, 10p
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7 . Academic Journal
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
저자
by
Ragge, Nicola
;
Isidor, Bertrand
;
Bitoun, Pierre
;
Odent, Sylvie
;
Giurgea, Irina
, et al.
소스
Human Genetics
. Sep2019, Vol. 138 Issue 8/9, p1051-1069. 19p.
Scopus
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7 . Academic Journal
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
저자
by
Schaefer, Elise
;
Durand, Myriam
;
Stoetzel, Corinne
;
Doray, Bérénice
;
Viville, Brigitte
, et al.
소스
In
European Journal of Medical Genetics
2011 54(2):157-160
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7 . Periodical
Novel PXDNbiallelic variants in patients with microphthalmia and anterior segment dysgenesis
저자
by
Zazo-Seco, Celia
;
Plaisancié, Julie
;
Bitoun, Pierre
;
Corton, Marta
;
Arteche, Ana
, et al.
소스
Journal of Human Genetics; May 2020, Vol. 65 Issue: 5 p487-491, 5p
Scopus
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7 . Academic Journal
The supplementary motor area modulates interhemispheric interactions during movement preparation.
저자
by
Welniarz, Quentin
;
Gallea, Cécile
;
Lamy, Jean‐Charles
;
Méneret, Aurélie
;
Popa, Traian
, et al.
소스
Human Brain Mapping
. May2019, Vol. 40 Issue 7, p2125-2142. 18p.
Open Access (Wiley)
Scopus
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7 . Academic Journal
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
저자
by
Aubert-Mucca, Marion
;
Pernin-Grandjean, Julie
;
Marchasson, Sébastien
;
Gaston, Veronique
;
Habib, Christophe
, et al.
소스
European Journal of Human Genetics
. 29(1):131-140
Scopus
Web of Science
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