Nabiha Salem - Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Université Saint-Joseph

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论文共 55 篇作者统计合作学者相似作者

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Updates on the Molecular Spectrum of MEFV Variants in Lebanese Patients with Familial Mediterranean Fever

Rudy Feghali,Jose-Noel Ibrahim,Nabiha Salem, Romy Moussallem, Ghina Hijazi, Charbel Attieh,Tony Yammine,Alain Chebly

FRONTIERS IN GENETICS (2025)

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A Novel Nonsense Variant in POGZ Expanding the Spectrum of White-Sutton Syndrome: A Case Report

Alain Chebly,Nabiha Salem, Romy Moussallem,Adib Moukarzel

Heliyonno. 21 (2024): e40057

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Novel SCN9A Variant Associated with Congenital Insensitivity to Pain

Tony Yammine,Raffi Aprahamian,Mirna Souaid,Nabiha Salem,Johnny Awwad,Chantal Farra

Molecular Biology Reportsno. 7 (2023): 6293-6298

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Analysis of ASS1 Gene in Ten Unrelated Middle Eastern Families with Citrullinemia Type 1 Identifies Rare and Novel Variants

Melissa Daou,Mirna Souaid,Tony Yammine,Issam Khneisser,Hicham Mansour,Nabiha Salem,Antony Nemr,Johnny Awwad,Adib Moukarzel,Chantal Farra

MOLECULAR GENETICS & GENOMIC MEDICINE（2023）

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A Homozygous Missense Variant in PTPN2 with Early-Onset Crohn’s Disease, Growth Failure and Dysmorphic Features in an Infant: a Case Report

JOHNNY AWWAD,MIRNA SOUAID,TONY YAMMINE,ALAIN CHEBLY,NABIHA SALEM,RITA ESBER,CHANTAL FARRA

JOURNAL OF GENETICS（2023）

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Screening of ASS1 gene in seven families from Lebanon, Syria, Iraq, Kurdistan with citrullinemia type 1 identifies rare and novel variant

Melissa Daou,Mirna Souaid,Tony Yammine,Anthony Nemr,Issam Khneisser,Nabiha Salem, Maya Rizkallah, Manal Mezher,Adib Moukarzel,Chantal Farra

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Novel Missense Mutation C.1784a>g, P.tyr595cys in RPS6KA3 Gene Responsible for Coffin-Lowry Syndrome in a Family with Variable Features and Diabetes 2

Marianne Touma Boulos,Adib Moukarzel,Tony Yammine,Nabiha Salem,Mirna Souaid,Chantal Farra

Clinical Dysmorphology（2020）

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FokI Vitamin D Receptor Gene Polymorphism and Serum 25-Hydroxyvitamin D in Patients with Cardiovascular Risk

Sahar Nakhl,Ghassan Sleilaty,Eliane Chouery,Nabiha Salem,Ramez Chahine,Nassim Farès

Archives of medical sciences Atherosclerotic diseases（2019）

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Contribution of Copy Number Variants (cnvs) to Congenital, Unexplained Intellectual and Developmental Disabilities in Lebanese Patients

Nancy Choucair,Joelle Abou Ghoch,Sandra Corbani,Pierre Cacciagli,Cecile Mignon-Ravix,Nabiha Salem,Nadine Jalkh,Sandra El Sabbagh,Ali Fawaz,Tony Ibrahim,Laurent Villard,André Mégarbané,Eliane Chouery

Molecular Cytogeneticsno. 1 (2015)

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