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1 .
Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel
CTSD
mutation
저자
by
Sophie Rondeau
;
Cécile Masson
;
Suzanne Chartier
;
Lucile Boutaud
;
Catherine Caillaud
, et al.
소스
Birth Defects Research
. 113:1324-1332
Web of Science
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7 .
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects
저자
by
Marguerite Hureaux
;
Giulia Barcia
;
Charlotte Mechler
;
Catherine Turleau
;
Valérie Malan
, et al.
소스
Prenatal Diagnosis
. 39:1026-1034
Web of Science
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7 .
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion
저자
by
Cécile Jeanpierre
;
Vincent Jung
;
Aurore Pouliet
;
Katta M. Girisha
;
Alexandre Benmerah
, et al.
소스
Human Molecular Genetics
. 28:2720-2737
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7 .
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A
저자
by
Simon Boussion
;
Sandra Whalen
;
Tania Attié-Bitach
;
Pierre-Simon Jouk
;
Dominique Carles
, et al.
소스
Human mutationREFERENCES
. 41(7)
Scopus
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7 .
Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency
저자
by
Olivier Picone
;
Agnes Guet
;
Laurent Mandelbrot
;
Charles Egloff
;
Aurelia Eldin de Pecoulas
, et al.
소스
Prenatal Diagnosis
. 38:607-616
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7 .
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations
저자
by
Valérie Malan
;
Jelena Martinovic
;
Lucile Boutaud
;
Bettina Bessières
;
Jean-Pierre Bernard
, et al.
소스
Birth Defects Research
. 109:1586-1595
Web of Science
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7 .
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases
저자
by
Philippe Loget
;
Fanny Pelluard
;
Valérie Goua
;
Annie Laquerrière
;
Alain Verloes
, et al.
소스
Prenatal Diagnosis
. 36:1270-1275
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7 .
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies
저자
by
Maryse Bonnière
;
Férechté Encha-Razavi
;
Yves Ville
;
Lucile Boutaud
;
Laurence Colleaux
, et al.
소스
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (5), pp.1091-1098. ⟨10.1002/ajmg.a.38684⟩
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7 .
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1
저자
by
Lucile Boutaud
;
Patrick Nitschke
;
Naima Talhi
;
Olivier Alibeu
;
Séverine Bacrot
, et al.
소스
Birth defects research
. 110(6)
Scopus
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7 .
Fetal phenotype associated with the 22q11 deletion
저자
by
Annie Laquerrière
;
Corinne Jeanne-Pasquier
;
Charlotte Mechler
;
Laurence Loeuillet
;
Camille Leroy
, et al.
소스
American Journal of Medical Genetics Part A
. 164:2724-2731
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