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/vufind/Search/Results?lookfor=%22Chouery%2C+Eliane%22&type=Person&sort=year
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PubPharm (198)
1
ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
enthalten in:
The Egyptian journal of medical human genetics
| 2024
von
El Khatib, D.
|
Hojeij, M.
|
Sabbagh, S.
| +5
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2
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects
enthalten in:
Clinical genetics
| 2024
von
Mehawej, C.
|
Ibrahim, M.
|
Khalife, L.
| +6
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3
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects
enthalten in:
Clinical Genetics
| 2024
von
Mehawej, C.
|
Ibrahim, M.
|
Khalife, L.
| +6
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4
Genetic profile of borderline ovarian tumors in the Lebanese population by whole-exome sequencing
enthalten in:
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
| 2023
von
Feghaly, I.
|
Kourie, H.
|
Moubarak, M.
| +4
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5
Non-syndromic hypotrichosis : A report of two novel variants in the LSS gene
enthalten in:
Pediatric dermatology
| 2023
von
El Hakim, J.
|
Mehawej, C.
|
Chouery, E.
| +3
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6
CHAMP1-Related Disorder : Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature
enthalten in:
Genes
| 2023
von
Abi Raad, S.
|
Yazbeck Karam, V.
|
Chouery, E.
| +2
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7
POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment
enthalten in:
Clinical immunology (Orlando, Fla.)
| 2023
von
Mehawej, C.
|
Chouery, E.
|
Azar-Atallah, S.
| +6
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8
BHLHA9 homozygous duplication in a consanguineous family : A challenge for genetic counseling
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Chouery, E.
|
Tahan, E.
|
Karam, R.
| +3
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9
PCDH19 in Males : Are Hemizygous Variants Linked to Autism?
enthalten in:
Genes
| 2023
von
Chouery, E.
|
Makhlouf, J.
|
Daoud Khatoun, W.
| +2
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10
Spondyloocular Syndrome : A Report of an Additional Family and Phenotypic Spectrum Delineation
enthalten in:
Genes
| 2023
von
Chouery, E.
|
Karam, R.
|
Mrad, Y.
| +5
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European journal of medical genetics
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American journal of medical genetics. Part A
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6
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5
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