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TITLE: MISSENSE MED12 VARIANTS IN 22 MALES WITH INTELLECTUAL DISABILITY: FROM NON-SPECIFIC SYMPTOMS TO COMPLETE SYNDROMES  Full Text
AUTHORS: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisbeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Ma; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Csaszar, Andrea; Karteszi, Judit; Bessenyei, Beata; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; ...More
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: Differences Sustained Between Diffuse and Limited Forms of Juvenile Systemic Sclerosis in an Expanded International Cohort  Full Text
AUTHORS: Foeldvari, Ivan; Klotsche, Jens; Kasapcopur, Ozgur; Adrovic, Amra; Terreri, Maria Teresa; Sakamoto, Ana Paula; Stanevicha, Valda; Sztajnbok, Flavio; Anton, Jordi; Feldman, Brian; Alexeeva, Ekaterina; Katsicas, Maria; Smith, Vanessa; Avcin, Tadej; Marrani, Edoardo; Kostik, Mikhail; Lehman, Thomas; Sifuentes Giraldo, Walter Alberto; Vasquez Canizares, Natalia; Appenzeller, Simone; Janarthanan, Mahesh; Moll, Monika; Nemcova, Dana; Patwardhan, Anjali; Santos, Maria Jose; Sawhney, Sujata; Schonenberg Meinema, Dieneke; Battagliotti, Cristina; Berntson, Lillemor; Bica, Blanca; Brunner, Jurgen; Costa Reis, Patricia; Eleftheriou, Despina; Harel, Liora; Horneff, Gerd; Kaiser, Daniela; Kallinich, Tilmann; Lazarevic, Dragana; Minden, Kirsten; Nielsen, Susan; Nuruzzaman, Farzana; Uziel, Yosef; Helmus, Nicola; Torok, Kathryn S.; ...More
PUBLISHED: 2022, SOURCE: ARTHRITIS CARE & RESEARCH
INDEXED IN: WOS
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TITLE: Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes  Full Text
AUTHORS: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisabeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Maria; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Csaszar, Andrea; Karteszi, Judit; Bessenyei, Beata; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
INDEXED IN: Scopus WOS
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TITLE: Are diffuse and limited juvenile systemic sclerosis different in clinical presentation? Clinical characteristics of a juvenile systemic sclerosis cohort
AUTHORS: Ivan Foeldvari; Jens Klotsche; Kathryn S Torok; Ozgur Kasapcopur; Amra Adrovic; Valda Stanevicha; Maria Teresa Terreri; Ekaterina Alexeeva; Maria Katsicas; Rolando Cimaz; Mikhail Kostik; Thomas Lehman; Walter Alberto Sifuentes Giraldo; Vanessa Smith; Flavio Sztajnbok; Tadej Avcin; Maria Jose Santos; Monika Moll; Dana Nemcova; Cristina Battagliotti; Despina Eleftheriou; Mahesh Janarthanan; Tilmann Kallinich; Jordi Anton; Kirsten Minden; Susan Nielsen; Yosef Uziel; Nicola Helmus; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF SCLERODERMA AND RELATED DISORDERS, VOLUME: 4, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Update from the Juvenile Scleroderma Inception Cohort
AUTHORS: Ivan Foeldvari; Jens Klotsche; Ozgur Kasapcopur; Amra Adrovic; Kathryn S Torok; Valda Stanevicha; Flavio Sztajnbok; Maria Teresa Terreri; Ekaterina Alexeeva; Jordi Anton; Maria M Katsicas; Vanessa Smith; Tadey Avcin; Rolando Cimaz; Mikhail Kostik; Thomas J A Lehman; Walter A Sifuentes Giraldo; Simone Appenzeller; Mahesh Janarthanan; Dana Nemkova; Maria Jose Santos; Cristina Battagliotti; Lillemor Berntson; Blanca Bica; Juergen Brunner; Patricia Costa Reis; Despina Eleftheriou; Liora Harel; Gerd Horneff; Tilmann Kallinich; Dragana Lazarevic; Kirsten Minden; Susan Mary Nielsen; Yosef Uziel; Nicola Helmus; ...More
PUBLISHED: 2018, SOURCE: ARTHRITIS & RHEUMATOLOGY, VOLUME: 70
INDEXED IN: WOS
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TITLE: Lateral Elbow Tendinopathy: A Better Term Than Lateral Epicondylitis or Tennis Elbow
AUTHORS: Munawar Ali; Thomas A Lehman;
PUBLISHED: 2009, SOURCE: JOURNAL OF HAND SURGERY-AMERICAN VOLUME, VOLUME: 34A, ISSUE: 8
INDEXED IN: WOS CrossRef