Suchergebnisse - "Chouery, Eliane"

PubPharm (5)

1

Spondyloocular Syndrome : A Report of an Additional Family and Phenotypic Spectrum Delineation

enthalten in: Genes | 2023

von Chouery, E. | Karam, R. | Mrad, Y. | +5

2

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability

enthalten in: Clinical genetics | 2020

von Hamdan, N. | Mehawej, C. | Sebaaly, G. | +5

3

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

enthalten in: European journal of human genetics : EJHG | 2011

von Clarke, N. | Maugenre, S. | Vandebrouck, A. | +12

4

SMOC1 is essential for ocular and limb development in humans and mice

enthalten in: American journal of human genetics | 2011

von Okada, I. | Hamanoue, H. | Terada, K. | +25

5

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia : the odonto-onycho-dermal dysplasia

enthalten in: American journal of human genetics | 2007

von Adaimy, L. | Chouery, E. | Megarbane, H. | +6

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