Suchergebnisse - "El Chehadeh, S"

PubPharm (10)

1

Prenatal diagnosis of Prader-Willi syndrome with CGH-Array : About a case

enthalten in: Gynecologie, obstetrique, fertilite & senologie | 2018

von Schaub, M. | Viville, B. | Girard, F. | +2

2

Xq28 duplication including MECP2 in six unreported affected females : what can we learn for diagnosis and genetic counselling?

enthalten in: Clinical genetics | 2017

von El Chehadeh, S. | Touraine, R. | Prieur, F. | +40

3

Rett-like phenotypes : expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease

enthalten in: Clinical genetics | 2017

von Allou, L. | Julia, S. | Amsallem, D. | +12

4

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

enthalten in: Clinical genetics | 2017

von El Chehadeh, S. | Touraine, R. | Prieur, F. | +40

5

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5 -related disease

enthalten in: Clinical genetics | 2017

von Allou, L. | Julia, S. | Amsallem, D. | +12

6

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

enthalten in: Clinical genetics | 2017

von El Chehadeh, S. | Touraine, R. | Prieur, F. | +40

7

Rett‐like phenotypes : expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease

enthalten in: Clinical Genetics | 2017

von Allou, L. | Julia, S. | Amsallem, D. | +12

8

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

enthalten in: JIMD reports | 2015

von El Chehadeh, S. | Bonnet, C. | Callier, P. | +14

9

The pituitary stalk interruption syndrome : endocrine features and benefits of growth hormone therapy

enthalten in: Annales d'endocrinologie | 2010

von El Chehadeh, S. | Bensignor, C. | de Monléon, J. | +2

10

The pituitary stalk interruption syndrome: Endocrine features and benefits of growth hormone therapy

enthalten in: Annales d'endocrinologie | 2010

von El Chehadeh, S. | Bensignor, C. | de Monléon, J. | +2

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