1. A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases. Issue 1 (29th March 2021) Authors: Salvi, Alexandra; Skrypnyk, Cristina; Da Silva, Nathalie; Urtizberea, Jon Andoni; Bakhiet, Moiz; Robert, Catherine; Lévy, Nicolas; Megarbané, André; Delague, Valérie; Bartoli, Marc Journal: Clinical genetics Issue: Volume 100:Issue 1(2021) Page Start: 84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family. (2nd April 2013) Authors: Boubaker, Chokri; Hsairi‐Guidara, Inès; Castro, Christel; Ayadi, Ines; Boyer, Amandine; Kerkeni, Emna; Courageot, Joël; Abid, Imen; Bernard, Rafaëlle; Bonello‐Palot, Nathalie; Kamoun, Fatma; Cheikh, Hassen Ben; Lévy, Nicolas; Triki, Chahnez; Delague, Valérie Journal: Annals of human genetics Issue: Volume 77:Number 4(2013:Jul.) Page Start: 336 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. (2019) Authors: Jaouadi, Hager; Chehida, Amel Ben; Kraoua, Lilia; Etchevers, Heather C.; Argiro, Laurent; Kasdallah, Nadia; Blibech, Sonia; Delague, Valérie; Lévy, Nicolas; Tebib, Néji; Mrad, Ridha; Abdelhak, Sonia; Benkhalifa, Rym; Zaffran, Stéphane Journal: Genetical research Issue: Volume 101(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. (29th April 2019) Authors: Jaouadi, Hager; Chehida, Amel Ben; Kraoua, Lilia; Etchevers, Heather C.; Argiro, Laurent; Kasdallah, Nadia; Blibech, Sonia; Delague, Valérie; Lévy, Nicolas; Tebib, Néji; Mrad, Ridha; Abdelhak, Sonia; Benkhalifa, Rym; Zaffran, Stéphane Journal: Genetical research Issue: Volume 101(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. Issue 10 (1st October 2001) Authors: Mustapha, Myrna; Salem, Nabiha; Delague, Valérie; Chouery, Eliane; Ghassibeh, Michella; Rai, Myriam; Loiselet, Jacques; Petit, Christine; Mégarbané, André Journal: Journal of medical genetics Issue: Volume 38:Issue 10(2001) Page Start: e36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome. Issue 8 (2nd July 2020) Authors: Mégarbané, André; Hana, Sayeeda; El‐Hayek, Stephany; Gambarini, Alicia; Al‐Ali, Mahmoud Taleb; Delague, Valérie Journal: American journal of medical genetics Issue: Volume 182:Issue 8(2020) Page Start: 1865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly. Issue 5 (17th April 2012) Authors: Marion, Vincent; Stutzmann, Fanny; Gérard, Marion; De Melo, Charlie; Schaefer, Elise; Claussmann, Aurélie; Hellé, Sophie; Delague, Valérie; Souied, Eric; Barrey, Catherine; Verloes, Alain; Stoetzel, Corinne; Dollfus, Hélène Journal: Journal of medical genetics Issue: Volume 49:Issue 5(2012) Page Start: 317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. HINT1 neuropathy: Expanding the genotype and phenotype spectrum. Issue 5 (16th August 2022) Authors: Morel, Victor; Campana‐Salort, Emmanuelle; Boyer, Amandine; Esselin, Florence; Walther‐Louvier, Ulrike; Querin, Giorgia; Latour, Philippe; Lia, Anne‐Sophie; Magdelaine, Corinne; Beze‐Beyrie, Pierre; Behin, Anthony; Delague, Valérie; Levy, Nicolas; Stojkovic, Tanya; Attarian, Shahram; Bonello‐Palo... Journal: Clinical genetics Issue: Volume 102:Issue 5(2022) Page Start: 379 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1. (2nd April 2019) Authors: El-Bazzal, Lara; Rihan, Khalil; Bernard-Marissal, Nathalie; Castro, Christel; Chouery-Khoury, Eliane; Desvignes, Jean-Pierre; Atkinson, Alexandre; Bertaux, Karine; Koussa, Salam; Lévy, Nicolas; Bartoli, Marc; Mégarbané, André; Jabbour, Rosette; Delague, Valérie Journal: Human molecular genetics Issue: Volume 28:Number 14(2019) Page Start: 2378 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. Issue 10 (28th October 2018) Authors: Bacquet, Juliette; Stojkovic, Tanya; Boyer, Amandine; Martini, Nathalie; Audic, Frédérique; Chabrol, Brigitte; Salort-Campana, Emmanuelle; Delmont, Emilien; Desvignes, Jean-Pierre; Verschueren, Annie; Attarian, Shahram; Chaussenot, Annabelle; Delague, Valérie; Levy, Nicolas; Bonello-Palot, Nathalie Journal: BMJ open Issue: Volume 8:Issue 10(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗