Clinical Outcome in Singleton and Multiple Pregnancies with Placental Chorangioma von Sirotkina, Meeli, Douroudis, Konstantinos, Papadogiannakis, Nikos, Westgren, Magnus

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Exome sequencing in undiagnosed inherited and sporadic ataxias von Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F.

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Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering von Daud, Daniyal, Griffin, Helen, Douroudis, Konstantinos, Kleinle, Stephanie, Eglon, Gail, Pyle, Angela, Chinnery, Patrick F., Horvath, Rita

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Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population von Douroudis, Konstantinos, Kisand, Kalle, Nemvalts, Virge, Rajasalu, Tarvo, Uibo, Raivo

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The CD226 Gly307Ser gene polymorphism is associated with severity of psoriasis von Douroudis, Konstantinos, Kingo, Külli, Silm, Helgi, Reimann, Ene, Traks, Tanel, Vasar, Eero, Kõks, Sulev

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Exome sequencing in undiagnosed inherited and sporadic ataxias von Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F

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SCP2 mutations and neurodegeneration with brain iron accumulation von Horvath, Rita, Lewis-Smith, David, Douroudis, Konstantinos, Duff, Jennifer, Keogh, Michael, Pyle, Angela, Fletcher, Nicholas, Chinnery, Patrick F

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Association of chorangiomas to hypoxia-related placental changes in singleton and multiple pregnancy placentas von Sirotkina, Meeli, Douroudis, Konstantinos, Westgren, Magnus, Papadogiannakis, Nikos

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Genetic Analysis of Copy Number Variation in Large Chorangiomas von Sirotkina, Meeli, Douroudis, Konstantinos, Westgren, Magnus, Papadogiannakis, Nikos

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Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB von Keogh, Michael J, Pyle, Angela, Daud, Daniyal, Griffin, Helen, Douroudis, Konstantinos, Eglon, Gail, Miller, James, Horvath, Rita, Chinnery, Patrick F

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Clinical/Scientific Notes von Horvath, Rita, Lewis-Smith, David, Douroudis, Konstantinos, Duff, Jennifer, Keogh, Michael, Pyle, Angela, Fletcher, Nicholas, Chinnery, Patrick F

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Phenotypic variability of TRPV4 related neuropathies von Evangelista, Teresinha, Bansagi, Boglarka, Pyle, Angela, Griffin, Helen, Douroudis, Konstantinos, Polvikoski, Tuomo, Antoniadi, Thalia, Bushby, Kate, Straub, Volker, Chinnery, Patrick F, Lochmüller, Hanns, Horvath, Rita

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Polymorphisms in the ATG16L1 Gene are Associated with Psoriasis Vulgaris von DOUROUDIS, Konstantinos, KINGO, Külli, TRAKS, Tanel, REIMANN, Ene, RAUD, Kristi, RÄTSEP, Ranno, MÖSSNER, Rotraut, SILM, Helgi, VASAR, Eero, KOKS, Sulev

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Exploring the association between chorangioma and infantile haemangioma in singleton and multiple pregnancies: a case–control study in a Swedish tertiary centre von Sirotkina, Meeli, Douroudis, Konstantinos, Wahlgren, Carl-Fredrik, Westgren, Magnus, Papadogiannakis, Nikos

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CTLA-4 promoter polymorphisms are associated with latent autoimmune diabetes in adults von Douroudis, Konstantinos, Prans, Ele, Uibo, Raivo

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ATG16L1 gene polymorphisms are associated with palmoplantar pustulosis von Douroudis, Konstantinos, Kingo, Külli, Traks, Tanel, Rätsep, Ranno, Silm, Helgi, Vasar, Eero, Kõks, Sulev

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Association of CTLA4 but not ICOS polymorphisms with type 1 diabetes in two populations with different disease rates von Douroudis, Konstantinos, Laine, Antti-Pekka, Heinonen, Mirkka, Hermann, Robert, Lipponen, Kati, Veijola, Riitta, Simell, Olli, Knip, Mikael, Uibo, Raivo, Ilonen, Jorma, Kisand, Kalle

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The PRO2268 Gene as a Novel Susceptibility Locus for Vitiligo von DOUROUDIS, Konstantinos, KINGO, Külli, KARELSON, Maire, SILM, Helgi, REIMANN, Ene, TRAKS, Tanel, VASAR, Eero, KOKS, Sulev

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Respiratory chain deficiency in nonmitochondrial disease von Pyle, Angela, Nightingale, Helen J, Griffin, Helen, Abicht, Angela, Kirschner, Janbernd, Baric, Ivo, Cuk, Mario, Douroudis, Konstantinos, Feder, Lea, Kratz, Markus, Czermin, Birgit, Kleinle, Stephanie, Santibanez-Koref, Mauro, Karcagi, Veronika, Holinski-Feder, Elke, Chinnery, Patrick F, Horvath, Rita

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Immunohistochemical expression of the PRO2268 protein in psoriasis vulgaris skin von Douroudis, Konstantinos, Sirotkina, Meeli, Kingo, Külli, Mössner, Rotraut, Kõks, Sulev

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