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Mégarbané, André
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1

Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Diso..:

Bayanova, Mirgul ; Abilova, Aigerim ; Nauryzbayeva, Alisa..
Case Reports in Medicine.  2024 (2024)  - p. 1-3 , 2024
Link: https://doi.org/10.1155/..
 
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2

How many phenotypes for the FBXO11 related disease? Report ..:

Mégarbané, Andre ; Mehawej, Cybel ; Mahfoud, Daniel...
European Journal of Medical Genetics.  69 (2024)  - p. 104944 , 2024
Link: https://doi.org/10.1016/..
 
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3

ADGRG1-related polymicrogyria syndrome: report on a large c..:

El Khatib, Dalida ; Hojeij, Moussa ; Sabbagh, Sandra...
Egyptian Journal of Medical Human Genetics.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

19 POLD3 deficiency is associated with syndromic severe com..:

Mehawej, Cybel ; Chouery, Eliane ; Azar-Atallah, Shirine...
Clinical Immunology.  262 (2024)  - p. 109961 , 2024
Link: https://doi.org/10.1016/..
 
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5

A Case Report of Dextrocardia with Situs Inversus: A Rare C..:

Deshimo, Girma ; Abebe, Haile ; Damtew, Getiye...
Case Reports in Medicine.  2024 (2024)  - p. 1-7 , 2024
Link: https://doi.org/10.1155/..
 
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6

Dravet Syndrome: A Rare Form of Epilepsy:

Hosani, Salwa Al ; Varghese, Sona ; Mégarbané, André
Case Reports in Medicine.  2024 (2024)  1 - p. , 2024
Link: https://doi.org/10.1155/..
 
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7

Impact of genetic and non-genetic factors on phenotypic div..:

Hammann, Nicole ; Lenz, Dominic ; Baric, Ivo...
Molecular Genetics and Metabolism.  141 (2024)  3 - p. 108118 , 2024
Link: https://doi.org/10.1016/..
 
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8

A Young Woman with Common Variable Immunodeficiency: The Ro..:

Khodadadi, Amirhossein ; Khodashahi, Rozita ; Mégarbané, André
Case Reports in Medicine.  2024 (2024)  - p. 1-3 , 2024
Link: https://doi.org/10.1155/..
 
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9

A homozygous frameshift variant expands the clinical spectr..:

Mehawej, Cybel ; Ibrahim, Maroun ; Khalife, Lynn...
Clinical Genetics.  105 (2023)  2 - p. 202-208 , 2023
Link: https://doi.org/10.1111/..
 
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10

Non‐syndromic hypotrichosis: A report of two novel variants..:

El Hakim, Joelle ; Mehawej, Cybel ; Chouery, Eliane...
Pediatric Dermatology.  40 (2023)  5 - p. 960-961 , 2023
Link: https://doi.org/10.1111/..
 
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11

CHAMP1-Related Disorder: Sharing 20 Years of thorough Clini..:

Abi Raad, Sarah ; Yazbeck Karam, Vanda ; Chouery, Eliane..
Genes.  14 (2023)  8 - p. 1546 , 2023
Link: https://doi.org/10.3390/..
 
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12

Positive impact of sulfamethoxazole-trimethoprim prophylaxi..:

Khalil, Marina-Antoinette ; Fata, Anthony ; Diab, Ernest...
Journal of Rare Diseases.  2 (2023)  1 - p. , 2023
Link: https://doi.org/10.1007/..
 
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13

The global challenges of the long COVID-19 in adults and ch..:

Rodriguez-Morales, Alfonso J. ; Lopez-Echeverri, María Camila ; Perez-Raga, Maria Fernanda...
Travel Medicine and Infectious Disease.  54 (2023)  - p. 102606 , 2023
Link: https://doi.org/10.1016/..
 
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14

PCDH19 in Males: Are Hemizygous Variants Linked to Autism?:

Chouery, Eliane ; Makhlouf, Jana ; Daoud Khatoun, Wassim..
Genes.  14 (2023)  3 - p. 598 , 2023
Link: https://doi.org/10.3390/..
 
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15

Antithrombin Deficiency Is Associated with a Novel Homozygo..:

Alqarni, Sana ; Alqarni, Baraah ; Alsultan, Abdulrahman.
Case Reports in Medicine.  2023 (2023)  - p. 1-4 , 2023
Link: https://doi.org/10.1155/..
 
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