1. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Issue 2 (11th November 2022) Authors: Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot‐Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; ... Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability. Issue 2 (9th November 2021) Authors: Heddar, Abdelkader; Guichoux, Nathalie; Auger, Nathalie; Misrahi, Micheline Journal: Clinical genetics Issue: Volume 101:Issue 2(2022) Page Start: 242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency. (June 2018) Authors: Huhtaniemi, Ilpo; Hovatta, Outi; La Marca, Antonio; Livera, Gabriel; Monniaux, Danielle; Persani, Luca; Heddar, Abdelkader; Jarzabek, Katarzyna; Laisk-Podar, Triin; Salumets, Andres; Tapanainen, Juha S.; Veitia, Reiner A.; Visser, Jenny A.; Wieacker, Peter; Wolczynski, Slawomir; Misrahi, Micheline Journal: Trends in endocrinology and metabolism Issue: Volume 29:Number 6(2018) Page Start: 400 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Correction to: Power and Pitfalls of Computational Methods to Identify New Genes Responsible for Acute Liver Failure of Indeterminate Etiology in Adults. Issue 9 (15th September 2020) Authors: Heddar, Abdelkader; Misrahi, Micheline Journal: Clinical and translational gastroenterology Issue: Volume 11:Issue 9(2020) Page Start: e00248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Familial solitary chondrosarcoma resulting from germline EXT2 mutation. Issue 2 (25th October 2016) Authors: Heddar, Abdelkader; Fermey, Pierre; Coutant, Sophie; Angot, Emilie; Sabourin, Jean‐Christophe; Michelin, Paul; Parodi, Nathalie; Charbonnier, Françoise; Vezain, Myriam; Bougeard, Gaëlle; Baert‐Desurmont, Stéphanie; Frébourg, Thierry; Tournier, Isabelle Journal: Genes, chromosomes & cancer Issue: Volume 56:Issue 2(2017:Feb.) Page Start: 128 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait. Issue 2 (1st June 2020) Authors: Caburet, Sandrine; Heddar, Abdelkader; Dardillac, Elodie; Creux, Héléne; Lambert, Marie; Messiaen, Sébastien; Tourpin, Sophie; Livera, Gabriel; Lopez, Bernard S; Misrahi, Micheline Journal: Journal of medical genetics Issue: Volume 58:Issue 2(2021) Page Start: 125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Power and Pitfalls of Computational Methods to Identify New Genes Responsible for Acute Liver Failure of Indeterminate Etiology in Adults. Issue 8 (23rd August 2020) Authors: Heddar, Abdelkader; Misrahi, Micheline Journal: Clinical and translational gastroenterology Issue: Volume 11:Issue 8(2020) Page Start: e00180 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?. Issue 9 (26th August 2020) Authors: Heddar, Abdelkader; Misrahi, Micheline Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗