1. Effects of gender and menopause on the cholesterol and triglyceride content of lipoprotein subclasses as separated by high performance liquid chromatography. Issue 1 (July 2015) Authors: Furusyo, N.; Shimizu, M.; Ikezaki, H.; Hiramine, S.; Ura, K.; Mitsumoto, F.; Ai, M.; Okazaki, M.; Schaefer, E.; Hayashi, J.U.N. Journal: Atherosclerosis Issue: Volume 241:Issue 1(2015) Page Start: e118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences. Issue 3 (23rd July 2018) Authors: Brischoux‐Boucher, E.; Trimouille, A.; Baujat, G.; Goldenberg, A.; Schaefer, E.; Guichard, B.; Hannequin, P.; Paternoster, G.; Baer, S.; Cabrol, C.; Weber, E.; Godfrin, G.; Lenoir, M.; Lacombe, D.; Collet, C.; Van Maldergem, L. Journal: Clinical genetics Issue: Volume 94:Issue 3/4(2018) Page Start: 373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations. (12th June 2013) Authors: Schaefer, E.; Lauer, J.; Durand, M.; Pelletier, V.; Obringer, C.; Claussmann, A.; Braun, J.‐J.; Redin, C.; Mathis, C.; Muller, J.; Schmidt‐Mutter, C.; Flori, E.; Marion, V.; Stoetzel, C.; Dollfus, H. Journal: Clinical genetics Issue: Volume 85:Number 5(2014:May) Page Start: 476 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. MITOGEN-ACTIVATED PROTEIN KINASES (MAPK) AS PREDICTORS OF CLINICAL OUTCOME IN SEROUS OVARIAN CARCINOMA IN EFFUSIONS. Issue 1 (1st March 2003) Authors: Givat-Horwitz, V.; Davidson, B.; Lazarovici, P.; Schaefer, E.; Nesland, J. M.; Tropé, C. G.; Reich, R. Journal: International journal of gynecological cancer Issue: Volume 13:Issue 1(2003) Supplement Page Start: 12 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Issue 3 (18th May 2017) Authors: Lehman, N.; Mazery, A.C.; Visier, A.; Baumann, C.; Lachesnais, D.; Capri, Y.; Toutain, A.; Odent, S.; Mikaty, M.; Goizet, C.; Taupiac, E.; Jacquemont, M.L.; Sanchez, E.; Schaefer, E.; Gatinois, V.; Faivre, L.; Minot, D.; Kayirangwa, H.; Sang, K.‐H.L.Q.; Boddaert, N. Journal: Clinical genetics Issue: Volume 92:Issue 3(2017) Page Start: 298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phase 1b/2 trial of taladegib (LY2940680), a Hh/Smo inhibitor, in combination with carboplatin and etoposide followed by taladegib maintenance in extensive-stage small-cell lung cancer. (December 2016) Authors: Schaefer, E.; Braiteh, F.; Forster, M.; Talbot, D.; Chandler, J.; Richards, D.; Andre, V.; Estrem, S.; Pitou, C.; Tiu, R.; Brail, L.; Nikolinakos, P. Journal: European journal of cancer Issue: Volume 69(2016)supplement 1 Page Start: S131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases. (24th January 2013) Authors: Gaudineau, A.; Doray, B.; Schaefer, E.; Sananès, N.; Fritz, G.; Kohler, M.; Alembik, Y.; Viville, B.; Favre, R.; Langer, B. Journal: Prenatal diagnosis Issue: Volume 33:Number 3(2013:Mar.) Page Start: 238 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. SdLDL-C - A promising precocious biomarker for coronary artery disease in Azorean subjects. (August 2018) Authors: Ferin borges, R.; Lima, A.; Santos, E.; Fontes, A.; Martins, D.; Schaefer, E.; Baptista, J.; Pavão, M. Journal: Atherosclerosis Issue: Volume 275(2018) Page Start: e221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Issue 1 (17th May 2018) Authors: Baer, S.; Afenjar, A.; Smol, T.; Piton, A.; Gérard, B.; Alembik, Y.; Bienvenu, T.; Boursier, G.; Boute, O.; Colson, C.; Cordier, M.‐P.; Cormier‐Daire, V.; Delobel, B.; Doco‐Fenzy, M.; Duban‐Bedu, B.; Fradin, M.; Geneviève, D.; Goldenberg, A.; Grelet, M.; Haye, D. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗