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S El Chehadeh

Showing results (1-10 of 6) with videos related to

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Annales D'Endocrinologie|January 2, 2010
The pituitary stalk interruption syndrome: endocrine features and benefits of growth hormone therapyS El Chehadeh, C Bensignor, J-V de Monléon, et al.
Clinical Genetics|April 11, 2016
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related diseaseL Allou, S Julia, D Amsallem, et al.
Clinical Genetics|January 13, 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic testJ Thevenon, Y Duffourd, A Masurel-Paulet, et al.
JIMD Reports|January 29, 2015
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic MarkersS El Chehadeh, C Bonnet, P Callier, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndromeA Bourchany, I Giurgea, J Thevenon, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Annales D'Endocrinologie|January 2, 2010
The pituitary stalk interruption syndrome: endocrine features and benefits of growth hormone therapyS El Chehadeh, C Bensignor, J-V de Monléon, et al.
Clinical Genetics|April 11, 2016
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related diseaseL Allou, S Julia, D Amsallem, et al.
Clinical Genetics|January 13, 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic testJ Thevenon, Y Duffourd, A Masurel-Paulet, et al.
JIMD Reports|January 29, 2015
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic MarkersS El Chehadeh, C Bonnet, P Callier, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndromeA Bourchany, I Giurgea, J Thevenon, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
Pageof 1