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TÍTULO: Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients  Full Text
AUTORES: Mari Anne Vals; Angel Ashikov; Pilvi Ilves; Dagmar Loorits; Qiang Zeng; Rita Barone; Karin Huijben; Jolanta Sykut Cegielska; Luisa Diogo; Abdallah F Elias; Robert S Greenwood; Stephanie Grunewald; Peter M van Hasselt; Jiddeke M van de Kamp; Grazia Mancini; Agnieszka Okninska; Sander Pajusalu; Pauline M Rudd; Cecilie F Rustad; Ramona Salvarinova; Bert B A de Vries; Nicole I Wolf; Bobby G Ng; Hudson H Freeze; Dirk J Lefeber; Katrin Ounap; ...Mais
PUBLICAÇÃO: 2019, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, NÚMERO: 3
INDEXADO EM: Scopus WOS
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TÍTULO: Treatment outcome of creatine transporter deficiency: international retrospective cohort study  Full Text
AUTORES: Theodora U J Bruun; Sarah Sidky; Anabela O Bandeira; Francoise Guillaume Debray; Can Ficicioglu; Jennifer Goldstein; Kairit Joost; Dwight D Koeberl; Diogo Luisa; Marie Cecile Nassogne; Siobhan O'Sullivan; Katrin Ounap; Andreas Schulze; Lionel van Maldergem; Gajja S Salomons; Saadet Mercimek Andrews;
PUBLICAÇÃO: 2018, FONTE: METABOLIC BRAIN DISEASE, VOLUME: 33, NÚMERO: 3
INDEXADO EM: Scopus WOS
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TÍTULO: The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant  Full Text
AUTORES: David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir Kwa; Marjolein H Willemsen; Charlotte W Ockeloen; Marjolijn C Jongmans; Nathalie Van der Aa; Pinella Failla; Concetta Barone; Emanuela Avola; Alice S Brooks; Sarina G Kant; Erica H Gerkes; Helen V Firth; Katrin Ounap; Lynne M Bird; Diane Masser Frye; Jennifer R Friedman; Modupe A Sokunbi; Abhijit Dixit; Miranda Splitt; Mary K Kukolich; Julie McGaughran; Bradley P Coe; Jesus Florez; Nael Nadif Kasri; Han G Brunner; Elizabeth M Thompson; Jozef Gecz; Corrado Romano; Evan E Eichler; Bert B A de Vries; ...Mais
PUBLICAÇÃO: 2016, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, NÚMERO: 5
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Novel (ovario) leukodystrophy related to AARS2 mutations
AUTORES: Cristina Dallabona; Daria Diodato; Sietske H Kevelam; Tobias B Haack; Lee Jun Wong; Gajja S Salomons; Enrico Baruffini; Laura Melchionda; Caterina Mariotti; Tim M Strom; Thomas Meitinger; Holger Prokisch; Kim Chapman; Alison Colley; Helena Rocha; Katrin Ounap; Raphael Schiffmann; Ettore Salsano; Mario Savoiardo; Eline M Hamilton; Truus E M Abbink; Nicole I Wolf; Ileana Ferrero; Costanza Lamperti; Massimo Zeviani; Adeline Vanderver; Daniele Ghezzi; Marjo S van der Knaap; ...Mais
PUBLICAÇÃO: 2014, FONTE: NEUROLOGY, VOLUME: 82, NÚMERO: 23
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus  Full Text
AUTORES: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; Wui K Chong; Duccio M Cordelli; Patrick Ferreira; Joel Fluss; Ewan H Forrest; Emilio Franzoni; Caterina Garone; Simon R Hammans; Gunnar Houge; Imelda Hughes; Sebastien Jacquemont; Pierre Yves Jeannet; Rosalind J Jefferson; Ram Kumar; Georg Kutschke; Staffan Lundberg; Charles M Lourenco; Ramesh Mehta; Sakkubai Naidu; Ken K Nischal; Luis Nunes; Katrin Ounap; Michel Philippart; Prab Prabhakar; Sarah R Risen; Raphael Schiffmann; Calvin Soh; John B P Stephenson; Helen Stewart; Jon Stone; John L Tolmie; Marjo S van der Knaap; Jose P Vieira; Catheline N Vilain; Emma L Wakeling; Vanessa Wermenbol; Andrea Whitney; Simon C Lovell; Stefan Meyer; John H Livingston; Gabriela M Baerlocher; Graeme C M Black; Gillian I Rice; Yanick J Crow; ...Mais
PUBLICAÇÃO: 2012, FONTE: NATURE GENETICS, VOLUME: 44, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef