1. Exercise testing‐based algorithms to diagnose McArdle disease and MAD defects. (10th May 2018) Authors: Noury, J.‐B.; Zagnoli, F.; Carré, J.‐L.; Drouillard, I.; Petit, F.; Le Maréchal, C.; Marcorelles, P.; Rannou, F. Journal: Acta neurologica Scandinavica Issue: Volume 138:Number 4(2018) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype. (1st December 2022) Authors: Coste, T.; Aloui, C.; Petit, F.; Moutton, S.; Devisme, L.; Wells, C. F.; Leboucq, N.; Verpillat, P.; Yvert, M.; Rivier, F.; Tournier‐Lasserve, E. Journal: Ultrasound in obstetrics & gynecology Issue: Volume 60:Number 6(2022) Page Start: 805 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. Issue 6 (22nd February 2017) Authors: Lefebvre, M.; Duffourd, Y.; Jouan, T.; Poe, C.; Jean‐Marçais, N.; Verloes, A.; St‐Onge, J.; Riviere, J.‐B.; Petit, F.; Pierquin, G.; Demeer, B.; Callier, P.; Thauvin‐Robinet, C.; Faivre, L.; Thevenon, J. Journal: Clinical genetics Issue: Volume 91:Issue 6(2017) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A unique LAMB3 splice‐site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries. (1st October 2016) Authors: Mayer, B.; Silló, P.; Mazán, M.; Pintér, D.; Medvecz, M.; Has, C.; Castiglia, D.; Petit, F.; Charlesworth, A.; Hatvani, Zs.; Pamjav, H.; Kárpáti, S. Journal: British journal of dermatology Issue: Volume 175:Number 4(2016) Page Start: 721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey. Issue 5 (4th January 2016) Authors: Lefebvre, M.; Sanlaville, D.; Marle, N.; Thauvin‐Robinet, C.; Gautier, E.; Chehadeh, S.E.; Mosca‐Boidron, A.‐L.; Thevenon, J.; Edery, P.; Alex‐Cordier, M.‐P.; Till, M.; Lyonnet, S.; Cormier‐Daire, V.; Amiel, J.; Philippe, A.; Romana, S.; Malan, V.; Afenjar, A.; Marlin, S.; Chantot‐Bastaraud, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 630 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A unique LAMB3 splice‐site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries. (8th August 2016) Authors: Mayer, B.; Silló, P.; Mazán, M.; Pintér, D.; Medvecz, M.; Has, C.; Castiglia, D.; Petit, F.; Charlesworth, A.; Hatvani, Zs.; Pamjav, H.; Kárpáti, S. Journal: British journal of dermatology Issue: Volume 175:Number 4(2016) Page Start: 721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetics of patella hypoplasia/agenesis. Issue 1 (11th April 2018) Authors: Vanlerberghe, C.; Boutry, N.; Petit, F. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Small patella syndrome: New clinical and molecular insights into a consistent phenotype. Issue 6 (9th November 2017) Authors: Vanlerberghe, C.; Jourdain, A.‐S.; Dieux, A.; Toutain, A.; Callewaert, B.; Dupuis‐Girod, S.; Unger, S.; Wright, M.; Isidor, B.; Ghoumid, J.; Petit, F.; Boutry, N.; Escande, F.; Manouvrier‐Hanu, S. Journal: Clinical genetics Issue: Volume 92:Issue 6(2017) Page Start: 676 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Intrafamilial variability of ZRS‐associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing. (6th January 2015) Authors: Vanlerberghe, C.; Faivre, L.; Petit, F.; Fruchart, O.; Jourdain, A.‐S.; Clavier, F.; Gay, S.; Manouvrier‐Hanu, S.; Escande, F. Journal: Clinical genetics Issue: Volume 88:Number 5(2015:Nov.) Page Start: 479 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families. (15th July 2013) Authors: Petit, F.; Jourdain, A.‐S.; Andrieux, J.; Baujat, G.; Baumann, C.; Beneteau, C.; David, A.; Faivre, L.; Gaillard, D.; Gilbert‐Dussardier, B.; Jouk, P.‐S.; Le Caignec, C.; Loget, P.; Pasquier, L.; Porchet, N.; Holder‐Espinasse, M.; Manouvrier‐Hanu, S.; Escande, F. Journal: Clinical genetics Issue: Volume 85:Number 5(2014:May) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗