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Implication of syndromic cleft genes in non syndromic forms : towards translational phenotypes ?
Bénédicte Demeer
,
M. Basha
,
O. Boute
,
M. Mathieu-Dramard
,
L. van Maldergem
,
et al.
European Journal of Human Genetics, 2018, 26 (S), pp.223-224
Article dans une revue
hal-03598607v1
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Enamel-renal syndrome: identification of two novel non-consanguinous families with mutations in FAM20A gene
F. Jobic
,
S. De Broca
,
R. Vargas-Poussou
,
L. Lichtenberger
,
Guillaume Jedraszak
,
et al.
European Journal of Human Genetics, 2019, 27 (1), pp.989-990
Article dans une revue
hal-03606167v1
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Cat-Eye Syndrome: Phenotype and Cytogenetic analyses of a cohort of 44 patients from an international collaborative study
G. Jedraszak
,
Florence Jobic
,
Noémie Celton
,
T. Dery
,
Marlène Gallet
,
et al.
European Journal of Human Genetics, 2018, 26 (S), pp.459-460
Article dans une revue
hal-03565046v1
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Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations
C. Schluth-Bolard
,
F. Diguet
,
P. A. Rollat-Farnier
,
J. Amiel
,
M. A. Belaud-Rotureau
,
et al.
European Journal of Human Genetics, 2018, 26 (S), pp.628-629
Article dans une revue
hal-03600552v1
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Precocious prenatal phenotype of BHLHA9 duplication: a case report
G. Morin
,
Noémie Celton
,
T. Dery
,
Marlène Gallet
,
M. Mathieu-Dramard
,
et al.
European Journal of Human Genetics, 2018, 26 (S), pp.221-222
Article dans une revue
hal-03565047v1
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Oliver-McFarlane syndrome: mutations of PNPLA6 and follow-up of 30 years in two brothers
G. Jedraszak
,
N. De Roux
,
F. Jobic
,
Rachel Desailloud
,
H. Bony
,
et al.
European Journal of Human Genetics, 2019, 27 (1), pp.373
Article dans une revue
hal-03555795v1
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New intragenic rearrangements in non-Finnish MULIBREY nanism
Florence Jobic
,
G. Morin
,
C. Vincent-Delorme
,
Estelle Cadet
,
Rosalie Cabry
,
et al.
Article dans une revue
hal-03549135v1
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