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1 . Academic Journal
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
저자
by
Petit, Florence
;
Longoni, Mauro
;
Wells, Julie
;
Maser, Richard S.
;
Bogenschutz, Eric L.
, et al.
소스
In
The American Journal of Human Genetics
5 October 2023 110(10):1787-1803
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7 . Academic Journal
Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters
저자
by
Smol, Thomas
;
Frénois, Frédéric
;
Manouvrier-Hanu, Sylvie
;
Petit, Florence
;
Ghoumid, Jamal
.
소스
In
European Journal of Medical Genetics
January 2022 65(1)
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7 . Academic Journal
Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of “thyroid-checked” controls
저자
by
Kern, Benjamin
;
Coppin, Lucie
;
Romanet, Pauline
;
Crépin, Michel
;
Szuster, Isabelle
, et al.
소스
In
European Journal of Medical Genetics
March 2017 60(3):178-184
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7 . Academic Journal
Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability.
저자
by
Morel, Godelieve
;
Duhamel, Céline
;
Boussion, Simon
;
Frénois, Frédéric
;
Lesca, Gaetan
, et al.
소스
Human Mutation; Sep2020, Vol. 41 Issue 9, p1499-1506, 8p
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7 . Periodical
Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B
저자
by
Cardot Bauters, Catherine
;
Leteurtre, Emmanuelle
;
Carnaille, Bruno
;
Do Cao, Christine
;
Espiard, Stéphanie
, et al.
소스
Endocrine Connections; October 2020, Vol. 9 Issue: 10 p1042-1050, 9p
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7 . Academic Journal
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.
저자
by
Brunelle, Perrine
;
Jourdain, Anne‐Sophie
;
Escande, Fabienne
;
Martinovic, Jelena
;
Dupont, Juliette
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2019, Vol. 179 Issue 7, p1351-1356, 6p
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7 . Periodical
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5variants
저자
by
Vanlerberghe, Clémence
;
Jourdain, Anne-Sophie
;
Ghoumid, Jamal
;
Frenois, Frédéric
;
Mezel, Aurélie
, et al.
소스
European Journal of Human Genetics: EJHG; March 2019, Vol. 27 Issue: 3 p360-368, 9p
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7 . Academic Journal
The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study.
저자
by
Geerts, Laura
;
Fantini-Hauwel, Carole
;
Brugallé, Elodie
;
Boute, Odile
;
Frénois, Frédéric
, et al.
소스
Journal of Genetic Counseling; Jun2017, Vol. 26 Issue 3, p612-619, 8p
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7 . Periodical
Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1
저자
by
Ghoumid, Jamal
;
Stichelbout, Morgane
;
Jourdain, Anne-Sophie
;
Frenois, Frederic
;
Lejeune-Dumoulin, Sophie
, et al.
소스
Genetics in Medicine; September 2017, Vol. 19 Issue: 9 p1013-1021, 9p
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7 . Periodical
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
저자
by
Ghoumid, Jamal
;
Petit, Florence
;
Boute-Benejean, Odile
;
Frenois, Frédéric
;
Cartigny, Maryse
, et al.
소스
European Journal of Human Genetics: EJHG; August 2017, Vol. 25 Issue: 8 p1011-1014, 4p
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