Suchergebnisse - Megarbané, André

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome von Mégarbané, Hala, Mégarbané, André

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CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review von Sabbagh, Sandra, Antoun, Stephanie, Mégarbané, André

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1Novel MEFV transcripts in Familial Mediterranean fever patients and controls von Medlej-Hashim, Myrna, Nehme, Nancy, Chouery, Eliane, Jalkh, Nadine, Megarbane, André

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“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies von Romani, Marta, Mehawej, Cybel, Mazza, Tommaso, Mégarbané, Andre, Valente, Enza Maria

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A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness von Mégarbané, André, Slim, Rima, Nürnberg, Gudrun, Ebermann, Inga, Nürnberg, Peter, Bolz, Hanno Jörn

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First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene von Chebly, Alain, Corbani, Sandra, Abou Ghoch, Joelle, Mehawej, Cybel, Megarbane, André, Chouery, Eliane

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A Report on a Family with TMTC3-Related Syndrome and Review von Hana, Sayeeda, karthik, Deepak, Shan, Jingxuan, El Hayek, Stephany, Chouchane, Lotfi, Megarbane, André

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CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592 von Nicolas, Elsa, Poitelon, Yannick, Chouery, Eliane, Salem, Nabiha, Levy, Nicolas, Mégarbané, André, Delague, Valérie

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Pseudo-Guillain–Barré syndrome masking acute myeloid leukemia relapse: Brief report and review von El Karak, Fadi, El Rassy, Elie, Tabchi, Samer, Chouery, Eliane, Megarbane, Andre, Kattan, Joseph

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Genome-wide inbreeding estimation within Lebanese communities using SNP arrays von Jalkh, Nadine, Sahbatou, Mourad, Chouery, Eliane, Megarbane, André, Leutenegger, Anne-Louise, Serre, Jean-Louis

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Genome-wide inbreeding estimation within Lebanese communities using SNP arrays von Jalkh, Nadine, Sahbatou, Mourad, Chouery, Eliane, Megarbane, André, Leutenegger, Anne-Louise, Serre, Jean-Louis

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DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations von Lana, Erica, Mégarbané, André, Tourrière, Hélène, Sarda, Pierre, Lefranc, Gérard, Claustres, Mireille, De Sario, Albertina

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Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing von Reddy, Ramesh, Fahiminiya, Somayyeh, El Zir, Elie, Mansour, Ahmad, Megarbane, Andre, Majewski, Jacek, Slim, Rima

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Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: Report on a novel mutation von Haddad, Nour Maya N., Waked, Naji, Bejjani, Riad, Khoueir, Ziad, Chouery, Eliane, Corbani, Sandra, Mégarbané, André

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Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East von Alghamdi, Fouad, Al-Tawari, Asmaa, Alrohaif, Hadil, Alshuaibi, Walaa, Mansour, Hicham, Aartsma-Rus, Annemieke, Mégarbané, André

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Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1 von Belguith, Hanen, Masmoudi, Saber, Medlej-Hashim, Myrna, Chouery, Eliane, Weil, Dominique, Ayadi, Hammadi, Petit, Christine, Mégarbané, André

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Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects von Medlej-Hashim, Myrna, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Rawashdeh, Mohammed, Lefranc, Gérard, Loiselet, Jacques, Mégarbané, André

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The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency von Mansour, Hicham, Sabbagh, Sandra, Bizzari, Sami, El-Hayek, Stephany, Chouery, Eliane, Gambarini, Alicia, Gencik, Martin, Mégarbané, André

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Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders von Bizzari, Sami, Nair, Pratibha, Deepthi, Asha, Hana, Sayeeda, Al-Ali, Mahmoud Taleb, Megarbané, André, El-Hayek, Stephany

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Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome von Brun, Marie-Elisabeth, Lana, Erica, Rivals, Isabelle, Lefranc, Gérard, Sarda, Pierre, Claustres, Mireille, Mégarbané, André, De Sario, Albertina

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