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1 . Academic Journal
17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome
저자
by
El Chehadeh-Djebbar, Salima
;
Callier, Patrick
;
Masurel-Paulet, Alice
;
Bensignor, Candace
;
Méjean, Nathalie
, et al.
소스
In
European Journal of Medical Genetics
May-June 2011 54(3):369-373
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7 . Academic Journal
Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures
저자
by
Thevenon, Julien
;
Monnier, Nicole
;
Callier, Patrick
;
Dieterich, Klaus
;
Francoise, Michel
, et al.
소스
American Journal Of Medical Genetics - A
. Dec 01, 2014 164(12):3027-3034
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7 . Academic Journal
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
저자
by
Desch, Laurent
;
Marle, Nathalie
;
Mosca-Boidron, Anne-Laure
;
Faivre, Laurence
;
Eliade, Marie
, et al.
소스
Molecular Cytogenetics (17558166)
. 2015, Vol. 8 Issue 1, p1-5. 5p.
Open Access (BioMed Central)
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7 . Periodical
A de novomicrodeletion of SEMA5Ain a boy with autism spectrum disorder and intellectual disability
저자
by
Mosca-Boidron, Anne-Laure
;
Gueneau, Lucie
;
Huguet, Guillaume
;
Goldenberg, Alice
;
Henry, Céline
, et al.
소스
European Journal of Human Genetics: EJHG; June 2016, Vol. 24 Issue: 6 p838-843, 6p
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7 . Academic Journal
Additional evidence to support the role of the 20q13.33 region in susceptibility to autism
저자
by
Mosca-Boidron, Anne-Laure
;
Valduga, Mylène
;
Thauvin-Robinet, Christel
;
Lagarde, Nathalie
;
Marle, Nathalie
, et al.
소스
American Journal Of Medical Genetics - A
. Jun 01, 2013 161(6):1505-1507
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7 . Academic Journal
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
저자
by
Courcet, Jean-Benoît
;
Faivre, Laurence
;
Malzac, Perrine
;
Masurel-Paulet, Alice
;
Lopez, Estelle
, et al.
소스
Journal of Medical Genetics
. Dec 01, 2012 49(12):731-736
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7 . Academic Journal
An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation.
저자
by
Mosca-Boidron, Anne-Laure
;
Faivre, Laurence
;
Aho, Serge
;
Marle, Nathalie
;
Truntzer, Caroline
, et al.
소스
PLoS ONE
. Apr2013, Vol. 8 Issue 4, p1-10. 10p.
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7 . Academic Journal
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome
저자
by
El Chehadeh-Djebbar, Salima
;
Faivre, Laurence
;
Moncla, Anne
;
Aral, Bernard
;
Missirian, Chantal
, et al.
소스
Journal of Medical Genetics
. Nov 01, 2011 48(11):e1-e1
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7 . Academic Journal
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
저자
by
Mosca-Boidron, Anne-Laure
;
Gueneau, Lucie
;
Huguet, Guillaume
;
Goldenberg, Alice
;
Henry, Céline
, et al.
소스
European Journal of Human Genetics
. 24(6):838-843
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7 . Academic Journal
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
저자
by
Chehadeh-Djebbar, Salima El
;
Faivre, Laurence
;
Moncla, Anne
;
Aral, Bernard
;
Missirian, Chantal
, et al.
소스
Journal of Medical Genetics; Nov2011, Vol. 48 Issue 11, p1-3, 3p, 1 Diagram, 2 Charts
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