Suchergebnisse - "Megarbane, Andre"

PubPharm (489)

101

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

enthalten in: Journal of medical genetics | 2019

von Nguyen, K. | Broucqsault, N. | Chaix, C. | +21

102

The Lebanese Allele in the PET100 Gene : Report on Two New Families with Cytochrome c Oxidase Deficiency

enthalten in: Journal of pediatric genetics | 2019

von Mansour, H. | Sabbagh, S. | Bizzari, S. | +5

103

Correction : Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

enthalten in: PLoS genetics | 2018

von Rainger, J. | van Beusekom, E. | Ramsay, J. | +33

ErratumFor: PLoS Genet. 2011 Jul;7(7):e1002114. - PMID 21750680

104

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation

enthalten in: Electrophoresis | 2018

von Bruneel, A. | Cholet, S. | Drouin-Garraud, V. | +9

105

RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients

enthalten in: European cytokine network | 2018

von Ibrahim, J. | Jounblat, R. | Jalkh, N. | +6

106

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

enthalten in: Molecular genetics & genomic medicine | 2018

von Nair, P. | Sabbagh, S. | Mansour, H. | +21

107

RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients

enthalten in: European cytokine network | 2018

von Ibrahim, J. | Jounblat, R. | Jalkh, N. | +6

108

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

enthalten in: BMC medical genetics | 2018

von Chebly, A. | Corbani, S. | Abou Ghoch, J. | +3

109

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

enthalten in: BMC medical genetics | 2018

von Chebly, A. | Corbani, S. | Abou Ghoch, J. | +3

110

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

enthalten in: BMC medical genetics | 2018

von Chebly, A. | Corbani, S. | Abou Ghoch, J. | +3