1. "Lowe syndrome: A particularly severe phenotype without clinical kidney involvement". Issue 2 (11th December 2017) Authors: Abdalla, Ebtesam; El‐Beheiry, Ahmed; Dieterich, Klaus; Thevenon, Julien; Fauré, Julien; Rendu, John Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Author response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. (26th March 2019) Authors: Dai, Shenhao; Dieterich, Klaus; Jaeger, Marie; Wuyam, Bernard; Jouk, Pierre-Simon; Pérennou, Dominic Journal: Neurology Issue: Volume 92:Number 13(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care. Issue 3 (13th August 2019) Authors: Dieterich, Klaus; Kimber, Eva; Hall, Judith G. Other Names: Dahan‐Oliel Noémi guestEditor.; Hall Judith guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 3(2019) Page Start: 345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. Issue 6 (14th March 2019) Authors: Carrera‐García, Laura; Natera‐de Benito, Daniel; Dieterich, Klaus; de la Banda, Marta G. G.; Felter, Adrien; Inarejos, Emili; Codina, Anna; Jou, Cristina; Roldan, Monica; Palau, Francesc; Hoenicka, Janet; Pijuan, Jordi; Ortez, Carlos; Expósito‐Escudero, Jessica; Durand, Chantal; Nugues, Frédériqu... Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 915 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Classification of arthrogryposis. Issue 3 (4th July 2019) Authors: Hall, Judith G.; Kimber, Eva; Dieterich, Klaus Other Names: Dahan‐Oliel Noémi guestEditor.; Hall Judith guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 3(2019) Page Start: 300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022) Authors: Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy. Issue 9 (29th September 2020) Authors: Géraud, Justine; Dieterich, Klaus; Rendu, John; Uro Coste, Emmanuelle; Dobrzynski, Murielle; Marcorelle, Pascale; Ioos, Christine; Romero, Norma Beatriz; Baudou, Eloise; Brocard, Julie; Coville, Anne-Cécile; Fauré, Julien; Koenig, Michel; Juntas Morales, Raul; Lacène, Emmanuelle; Madelaine, Angél... Journal: Journal of medical genetics Issue: Volume 58:Issue 9(2021) Page Start: 602 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Common data elements and minimum data sets in cerebral palsy: Start small to grow big. (4th September 2022) Authors: Dieterich, Klaus Journal: Developmental medicine & child neurology Issue: Volume 64:Number 12(2022) Page Start: 1433 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures. Issue 12 (24th September 2014) Authors: Thevenon, Julien; Monnier, Nicole; Callier, Patrick; Dieterich, Klaus; Francoise, Michel; Montgomery, Tara; Kjaergaard, Susanne; Neas, Katherine; Dixon, Joanne; Dahm, Thomas Lee; Huet, Frédéric; Ragon, Clémence; Mosca‐Boidron, Anne‐Laure; Marle, Nathalie; Duplomb, Laurence; Aubriot‐Lorton, Marie‐... Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3027 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations. Issue 1 (7th December 2021) Authors: Le Tanno, Pauline; Latypova, Xenia; Rendu, John; Fauré, Julien; Bourg, Véronique; Gauthier, Marjolaine; Billy-Lopez, Gipsy; Jouk, Pierre-Simon; Dieterich, Klaus Journal: Journal of medical genetics Issue: Volume 60:Issue 1(2023) Page Start: 13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗