Katrin Ounap
AuthID: R-00G-JS6
1
TÃTULO: 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; ...Mais
PUBLICAÇÃO: 2019, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, NÚMERO: 3
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; ...Mais
PUBLICAÇÃO: 2019, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, NÚMERO: 3
INDEXADO EM: 
Scopus 
WOS
Scopus WOS2
TÃTULO: 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
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
Scopus WOS3
TÃTULO: 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; ...Mais
PUBLICAÇÃO: 2016, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, NÚMERO: 5
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; ...Mais
PUBLICAÇÃO: 2016, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, NÚMERO: 5
4
TÃTULO: 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; ...Mais
PUBLICAÇÃO: 2014, FONTE: NEUROLOGY, VOLUME: 82, NÚMERO: 23
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; ...Mais
PUBLICAÇÃO: 2014, FONTE: NEUROLOGY, VOLUME: 82, NÚMERO: 23
5
TÃTULO: 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; ...Mais
PUBLICAÇÃO: 2012, FONTE: NATURE GENETICS, VOLUME: 44, NÚMERO: 3
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; ...Mais
PUBLICAÇÃO: 2012, FONTE: NATURE GENETICS, VOLUME: 44, NÚMERO: 3
