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1 . Academic Journal
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
저자
by
Frédéric Tran Mau-Them
;
Julian Delanne
;
Anne-Sophie Denommé-Pichon
;
Hana Safraou
;
Ange-Line Bruel
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Anatomical and functional abnormalities on MRI in kabuki syndrome
저자
by
Jennifer Boisgontier
;
Jean Marc Tacchella
;
Hervé Lemaître
;
Natacha Lehman
;
Ana Saitovitch
, et al.
소스
NeuroImage: Clinical, Vol 21, Iss , Pp - (2019)
Full Text (Clinical Key)
Full Text (ScienceDirect)
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7 .
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
저자
by
Thomas Husson
;
François Lecoquierre
;
Gaël Nicolas
;
Anne-Claire Richard
;
Alexandra Afenjar
, et al.
소스
Open Access (OpenAIRE)
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7 .
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
저자
by
Friederike Petzold
;
Katy Billot
;
Xiaoyi Chen
;
Charline Henry
;
Emilie Filhol
, et al.
소스
INSERM–Necker Hospital NPH collaborative group 2023, ' The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies ', Kidney International . https://doi.org/10.1016/j.kint.2023.05.007
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7 .
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
저자
by
Uwe Kornak
;
Namrata Saha
;
Boris Keren
;
Alexander Neumann
;
Ana Lisa Taylor Tavares
, et al.
소스
Genetics in Medicine
. 24:1927-1940
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7 .
First evidence of
SOX2
mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
저자
by
Bertrand Chesneau
;
Marion Aubert‐Mucca
;
Félix Fremont
;
Jacmine Pechmeja
;
Vincent Soler
, et al.
소스
Clinical Genetics
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩
Web of Science
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7 .
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum
저자
by
Roseline Vibert
;
Cyril Mignot
;
Boris Keren
;
Sandra Chantot‐Bastaraud
;
Marie‐France Portnoï
, et al.
소스
Clinical Genetics
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
Scopus
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7 .
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
저자
by
Jessica Assoumani
;
Morgane Plutino
;
Caroline Benech
;
Nathalie Marle
;
Houda Karmous-Benailly
, et al.
소스
Clinical Genetics
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Clinical Genetics. Wiley
Open Access (OpenAIRE)
Scopus
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7 .
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome
저자
by
Odile Boute
;
Leila Ghesh
;
Nadia Elkhartoufi
;
Marie Denis Musquer
;
Lucile Boutaud
, et al.
소스
Clinical geneticsREFERENCES
. 100(4)
Scopus
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7 .
Author response for 'EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder'
저자
by
Odile Boute
;
Lyse Ruaud
;
Aafke Engwerda
;
Anne-Claude Tabet
;
Lionel Van Maldergem
, et al.
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