11. Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients. Issue 7 (23rd October 2021) Authors: Pilz, Robert; Opálka, Lukáš; Majcher, Adam; Grimm, Elisabeth; Van Maldergem, Lionel; Mihalceanu, Silvia; Schäkel, Knut; Enk, Alexander; Aubin, François; Bursztejn, Anne-Claire; Brischoux-Boucher, Elise; Fischer, Judith; Sandhoff, Roger Journal: Human molecular genetics Issue: Volume 31:Issue 7(2022) Page Start: 1105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2. Issue 4 (8th March 2013) Authors: Bornholdt, Dorothea; Atkinson, T. Prescott; Bouadjar, Bakar; Catteau, Benoit; Cox, Helen; De, Deepthi; Fischer, Judith; Gunasekera, Chalukya N.; Hadj‐Rabia, Smaïl; Happle, Rudolf; Holder‐Espinasse, Muriel; Kaminski, Elke; König, Arne; Mégarbané, André; Mégarbané, Hala; Neidel, Ulrike; Oeffner, Fr... Journal: Human mutation Issue: Volume 34:Issue 4(2013:Apr.) Page Start: 587 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome. (12th September 2022) Authors: Liu, Yanshan; Banka, Siddharth; Huang, Yingzhi; Hardman‐Smart, Jonathan; Pye, Derek; Torrelo, Antonio; Beaman, Glenda M.; Kazanietz, Marcelo G.; Baker, Martin J.; Ferrazzano, Carlo; Shi, Chenfu; Orozco, Gisela; Eyre, Stephen; van Geel, Michel; Bygum, Anette; Fischer, Judith; Miedzybrodzka, Zosia;... Journal: British journal of dermatology Issue: Volume 187:Number 6(2022) Page Start: 948 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome. (1st December 2022) Authors: Liu, Yanshan; Banka, Siddharth; Huang, Yingzhi; Hardman‐Smart, Jonathan; Pye, Derek; Torrelo, Antonio; Beaman, Glenda M.; Kazanietz, Marcelo G.; Baker, Martin J.; Ferrazzano, Carlo; Shi, Chenfu; Orozco, Gisela; Eyre, Stephen; van Geel, Michel; Bygum, Anette; Fischer, Judith; Miedzybrodzka, Zosia;... Journal: British journal of dermatology Issue: Volume 187:Number 6(2022) Page Start: 948 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten ITGA3‐Mutationen. (17th June 2021) Authors: Sondermann, Wiebke; Büscher, Rainer; Forster, Henrike; Stehling, Florian; Fischer, Judith; He, Yinghong; Has, Cristina Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 19:Number 6(2021) Page Start: 899 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A. (6th September 2018) Authors: Rauschendorf, Marc‐Alexander; Zimmer, Andreas D.; Laut, Astrid; Demmer, Philipp; Rösler, Bernd; Happle, Rudolf; Sartori, Silvina; Fischer, Judith Journal: Pigment cell & melanoma research Issue: Volume 32:Number 1(2019) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations. Issue 4 (29th May 2014) Authors: Kiely, Clare; Devaney, Deirdre; Fischer, Judith; Lenane, Patricia; Irvine, Alan D. Journal: Pediatric dermatology Issue: Volume 31:Issue 4(2014) Page Start: 517 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity. Issue 3 (26th December 2019) Authors: Laadhar, Sahar; Ben Mansour, Riadh; Marrakchi, Slaheddine; Miled, Nabil; Ennouri, Mariem; Fischer, Judith; Kaddechi, Mohamed Ali; Turki, Hamida; Fakhfakh, Faiza Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes. Issue 10 (28th June 2018) Authors: Has, Cristina; Fischer, Judith Other Names: Bauer Johann W. guestEditor.; Bodemer Christine guestEditor.; Schmuth Matthias guestEditor. Journal: Experimental dermatology Issue: Volume 28:Issue 10(2019) Page Start: 1146 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families. Issue 1 (4th August 2022) Authors: Li, Mingfeng; Fischer, Judith; Safwat, Sylvia; Shoman, Walaa; Chazli, Yasmine El; Alter, Svenja; Has, Cristina; Abdalla, Ebtesam Journal: Pediatric dermatology Issue: Volume 40:Issue 1(2023) Page Start: 113 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗