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1 . Academic Journal
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
저자
by
Lavillaureix, Alinoë
;
Rollier, Paul
;
Kim, Artem
;
Panasenkava, Veranika
;
De Tayrac, Marie
, et al.
소스
In
Genetics in Medicine
July 2024 26(7)
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7 . Academic Journal
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
저자
by
Tooze, Rebecca S.
;
Miller, Kerry A.
;
Swagemakers, Sigrid M.A.
;
Calpena, Eduardo
;
McGowan, Simon J.
, et al.
소스
In
Genetics in Medicine
September 2023 25(9)
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7 . 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)
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7 . Academic Journal
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
저자
by
Lefèvre, Charles R.
;
Collardeau‐Frachon, Sophie
;
Streichenberger, Nathalie
;
Berenguer‐Martin, Sophie
;
Clémenson, Alix
, et al.
소스
Journal of Inherited Metabolic Disease; Mar2024, Vol. 47 Issue 2, p255-269, 15p
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7 . Academic Journal
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.
저자
by
Ouedraogo, Zangbéwendé Guy
;
Janel, Caroline
;
Janin, Alexandre
;
Millat, Gilles
;
Langlais, Sarah
, et al.
소스
Genes
. Feb2024, Vol. 15 Issue 2, p225. 10p.
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7 . Academic Journal
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
저자
by
Racine, Caroline
;
Denommé-Pichon, Anne-Sophie
;
Engel, Camille
;
Mau-them, Frederic Tran
;
Bruel, Ange-Line
, et al.
소스
Journal of Medical Genetics; Jan2024, Vol. 61 Issue 1, p36-46, 11p
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7 . Academic Journal
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
저자
by
Celse, Tristan
;
Tingaud-Sequeira, Angèle
;
Dieterich, Klaus
;
Siegfried, Geraldine
;
Lecaignec, Cédric
, et al.
소스
Journal of Medical Genetics; Jun2023, Vol. 60 Issue 6, p620-626, 7p
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7 . Periodical
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
저자
by
Celse, Tristan
;
Tingaud-Sequeira, Angèle
;
Dieterich, Klaus
;
Siegfried, Geraldine
;
Lecaignec, Cédric
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 6 p620-626, 7p
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7 . Academic Journal
Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster.
저자
by
Couzens, Alexander
;
Lebreton, Aurélien
;
Masclaux, Frédéric
;
Guipponi, Michel
;
Pebrel‐Richard, Céline
, et al.
소스
Haemophilia
. Sep2022, Vol. 28 Issue 5, pe132-e135. 4p. 1 Graph.
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7 . Academic Journal
Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report.
저자
by
Echaubard, Stéphane
;
Pebrel-Richard, Céline
;
Chausset, Aurélie
;
Kemeny, Jean-Louis
;
Merlin, Etienne
, et al.
소스
Pediatric Rheumatology
. 7/30/2022, Vol. 20 Issue 1, p1-10. 10p.
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