Suchergebnisse - "Megarbane, Andre"

PubPharm (489)

91

Current management of Duchenne muscular dystrophy in the Middle East : expert report

enthalten in: Neurodegenerative disease management | 2019

von Jumah, M. | Muhaizea, M. | Rumayyan, A. | +16

92

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

enthalten in: European journal of medical genetics | 2019

von El-Bazzal, L. | Atkinson, A. | Gillart, A. | +3

93

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

enthalten in: Human molecular genetics | 2019

von Ansar, M. | Paracha, S. | Serretti, A. | +14

94

Cornelia de Lange syndrome in diverse populations

enthalten in: American journal of medical genetics. Part A | 2019

von Dowsett, L. | Porras, A. | Kruszka, P. | +62

95

Dravet Syndrome in Lebanon : First Report on Cases with SCN1A Mutations

enthalten in: Case reports in medicine | 2019

von Alame, S. | El-Houwayek, E. | Nava, C. | +6

96

The added value of WES reanalysis in the field of genetic diagnosis : lessons learned from 200 exomes in the Lebanese population

enthalten in: BMC medical genomics | 2019

von Jalkh, N. | Corbani, S. | Haidar, Z. | +21

97

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

enthalten in: BMC medical genomics | 2019

von Jalkh, N. | Corbani, S. | Haidar, Z. | +21

98

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

enthalten in: BMC medical genomics | 2019

von Jalkh, N. | Corbani, S. | Haidar, Z. | +21

99

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia : Synergistic Effect of Digenic Variants?

enthalten in: Molecular syndromology | 2019

von Nair, P. | Lama, M. | El-Hayek, S. | +6

100

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

enthalten in: Human mutation | 2019

von Laitman, Y. | Friebel, T. | Yannoukakos, D. | +33