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1 . Academic Journal
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients
저자
by
Masson, Julie
;
Pons, Linda
;
Busa, Tiffany
;
Missirian, Chantal
;
Lines, Matthew
, et al.
소스
In
European Journal of Medical Genetics
April 2022 65(4)
Full Text (Clinical Key)
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Scopus
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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)
Full Text (Clinical Key)
Full Text (ScienceDirect)
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7 . Academic Journal
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment
저자
by
Cabet, Sara
;
Lesca, Gaetan
;
Labalme, Audrey
;
Des Portes, Vincent
;
Guibaud, Laurent
, et al.
소스
In
European Journal of Medical Genetics
June 2020 63(6)
Full Text (Clinical Key)
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7 . Academic Journal
B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI.
저자
by
Gauthier, Lucas W.
;
Gossez, Morgane
;
Malcus, Christophe
;
Viel, Sébastien
;
Monneret, Guillaume
, et al.
소스
Clinical Genetics
. Jun2024, p1. 7p. 2 Illustrations, 2 Charts.
Scopus
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7 . Periodical
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
저자
by
Viora-Dupont, Eléonore
;
Robert, Françoise
;
Chassagne, Aline
;
Pélissier, Aurore
;
Staraci, Stéphanie
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-18, 18p
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7 . Academic Journal
Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills.
저자
by
Babinet, Marie-Noëlle
;
Thomas, Nadine
;
Pons, Linda
;
Schluth-Bolard, Caroline
;
Sanlaville, Damien
, et al.
소스
Psychiatric Genetics; Oct2023, Vol. 33 Issue 5, p202-205, 4p
Full Text (LWW)
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7 . Academic Journal
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.
저자
by
Osório, Joana Maria Almeida
;
Rodríguez-Herreros, Borja
;
Romascano, David
;
Junod, Vincent
;
Habegger, Aline
, et al.
소스
Molecular Autism
. 2/5/2021, Vol. 12 Issue 1, p1-14. 14p.
Open Access (BioMed Central)
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7 . Academic Journal
Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism.
저자
by
Perge, Kevin
;
Massoud, Mona
;
Gauthier-Moulinier, Hélène
;
Lascols, Olivier
;
Pangaud, Nicolas
, et al.
소스
Molecular Syndromology; 2020, Vol. 11 Issue 4, p223-227, 5p
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7 . Academic Journal
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
저자
by
Fohlen, Martine
;
Harzallah, Ines
;
Polivka, Marc
;
Giuliano, Fabienne
;
Pons, Linda
, et al.
소스
Child's Nervous System
. May2020, Vol. 36 Issue 5, p961-965. 5p.
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7 . Academic Journal
Intrafamilial Variability in LPIN1-Related Rhabdomyolysis.
저자
by
Pons, Linda
;
acquaviva-Bourdain, Cécile
;
Teyssedre, Sonia
;
Didier, Capucine
;
Veauville, alice
, et al.
소스
Molecular Syndromology; 2020, Vol. 11 Issue 3, p153-156, 4p
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