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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
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder
저자
by
Schmid, Cosima M.
;
Gregor, Anne
;
Costain, Gregory
;
Morel, Chantal F.
;
Massingham, Lauren
, et al.
소스
In
Genetics in Medicine
July 2023 25(7)
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7 . Academic Journal
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
저자
by
Arnaud, Lionel
;
Abi Warde, Marie-Thérèse
;
Barcia, Giulia
;
de Bellescize, Julitta
;
Chatron, Nicolas
, et al.
소스
In
European Journal of Medical Genetics
March 2022 65(3)
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7 . Academic Journal
Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency
저자
by
Pons, Linda
;
Sabatier, Isabelle
;
Alix, Eudeline
;
Faoucher, Marie
;
Labalme, Audrey
, et al.
소스
In
European Journal of Medical Genetics
October 2020 63(10)
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7 . Academic Journal
Phenotypic characterisation of SMAD4 variant carriers.
저자
by
Caillot, Claire
;
Saurin, Jean-Christophe
;
Hervieu, Valérie
;
Faoucher, Marie
;
Reversat, Julie
, et al.
소스
Journal of Medical Genetics; Aug2024, Vol. 61 Issue 8, p734-740, 10p
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7 . Academic Journal
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
저자
by
Lefèvre, Charles R.
;
Labarthe, François
;
Dufour, Diane
;
Moreau, Caroline
;
Faoucher, Marie
, et al.
소스
International Journal of Neonatal Screening (IJNS); Mar2023, Vol. 9 Issue 1, p6, 14p
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7 . Academic Journal
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.
저자
by
Cospain, Auriane
;
Faoucher, Marie
;
Cauchois, Aurélie
;
Carre, Wilfrid
;
Quelin, Chloé
, et al.
소스
Pediatric & Developmental Pathology; Sep2022, Vol. 25 Issue 5, p548-552, 5p
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7 . Periodical
FOSL2truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
저자
by
Cospain, Auriane
;
Rivera-Barahona, Ana
;
Dumontet, Erwan
;
Gener, Blanca
;
Bailleul-Forestier, Isabelle
, et al.
소스
Genetics in Medicine; December 2022, Vol. 24 Issue: 12 p2475-2486, 12p
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7 . Academic Journal
Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype.
저자
by
Cospain, Auriane
;
Schaefer, Elise
;
Faoucher, Marie
;
Dubourg, Christèle
;
Carré, Wilfrid
, et al.
소스
Clinical Genetics
. May2021, Vol. 99 Issue 5, p732-739. 8p.
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7 . Periodical
DISP1deficiency: 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
Genetics in Medicine; 20240101, Issue: Preprints
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