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Title:
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
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European Journal of Human Genetics [1018-4813] de Boer, Elke yr:2021
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author:
de Boer, Elke
Ockeloen, Charlotte W
Matalonga, Leslie
Horvath, Rita
Cohen, Enzo
Cuesta, Isabel
Danis, Daniel
Denommé Pichon, Anne-Sophie
Duffourd, Yannis
Gilissen, Christian
Johari, Mridul
Laurie, Steven
Li, Shuang
Nelson, Isabelle
Peters, Sophia
Paramonov, Ida
Prasanth, Sivakumar
Robinson, Peter
Sablauskas, Karolis
Savarese, Marco
Steyaert, Wouter
Töpf, Ana
van der Velde, Joeri K
Vitobello, Antonio
Rodenburg, Richard J
Janssen, Mirian
Henssen, Dylan
Banka, Siddharth
Benetti, Elisa
Casari, Giorgio
Ciolfi, Andrea
Clayton Smith, Jill
Dallapiccola, Bruno
Ellwanger, Kornelia
Faivre, Laurence
Graessner, Holm
Haack, Tobias B
Hammarsjö, Anna
Havlovicova, Marketa
Hoischen, Alexander
Hugon, Anne
Jackson, Adam
Kleefstra, Tjitske
Lindstrand, Anna
López Martín, Estrella
Macek, Milan
Morleo, Manuela
Nigro, Vicenzo
Nordgren, Ann
Pettersson, Maria
Pinelli, Michele
Pizzi, Simone
Posada, Manuel
Radio, Francesca C
Renieri, Alessandra
Rooryck, Caroline
Ryba, Lukas
Schwarz, Martin
Tartaglia, Marco
Thauvin, Christel
Torella, Annalaura
Verloes, Alain
Vissers, Lisenka
Votypka, Pavel
Vyshka, Klea
Zurek, Birte
Trimouille, Aurélien
last name
initials
Other articles by this author? -- in
Online Contents Geosciences
author:
de Boer, Elke
Ockeloen, Charlotte W
Matalonga, Leslie
Horvath, Rita
Cohen, Enzo
Cuesta, Isabel
Danis, Daniel
Denommé Pichon, Anne-Sophie
Duffourd, Yannis
Gilissen, Christian
Johari, Mridul
Laurie, Steven
Li, Shuang
Nelson, Isabelle
Peters, Sophia
Paramonov, Ida
Prasanth, Sivakumar
Robinson, Peter
Sablauskas, Karolis
Savarese, Marco
Steyaert, Wouter
Töpf, Ana
van der Velde, Joeri K
Vitobello, Antonio
Rodenburg, Richard J
Janssen, Mirian
Henssen, Dylan
Banka, Siddharth
Benetti, Elisa
Casari, Giorgio
Ciolfi, Andrea
Clayton Smith, Jill
Dallapiccola, Bruno
Ellwanger, Kornelia
Faivre, Laurence
Graessner, Holm
Haack, Tobias B
Hammarsjö, Anna
Havlovicova, Marketa
Hoischen, Alexander
Hugon, Anne
Jackson, Adam
Kleefstra, Tjitske
Lindstrand, Anna
López Martín, Estrella
Macek, Milan
Morleo, Manuela
Nigro, Vicenzo
Nordgren, Ann
Pettersson, Maria
Pinelli, Michele
Pizzi, Simone
Posada, Manuel
Radio, Francesca C
Renieri, Alessandra
Rooryck, Caroline
Ryba, Lukas
Schwarz, Martin
Tartaglia, Marco
Thauvin, Christel
Torella, Annalaura
Verloes, Alain
Vissers, Lisenka
Votypka, Pavel
Vyshka, Klea
Zurek, Birte
Trimouille, Aurélien
last name
initials
Other articles by this author? -- using
Web of Science
author:
de Boer, Elke
Ockeloen, Charlotte W
Matalonga, Leslie
Horvath, Rita
Cohen, Enzo
Cuesta, Isabel
Danis, Daniel
Denommé Pichon, Anne-Sophie
Duffourd, Yannis
Gilissen, Christian
Johari, Mridul
Laurie, Steven
Li, Shuang
Nelson, Isabelle
Peters, Sophia
Paramonov, Ida
Prasanth, Sivakumar
Robinson, Peter
Sablauskas, Karolis
Savarese, Marco
Steyaert, Wouter
Töpf, Ana
van der Velde, Joeri K
Vitobello, Antonio
Rodenburg, Richard J
Janssen, Mirian
Henssen, Dylan
Banka, Siddharth
Benetti, Elisa
Casari, Giorgio
Ciolfi, Andrea
Clayton Smith, Jill
Dallapiccola, Bruno
Ellwanger, Kornelia
Faivre, Laurence
Graessner, Holm
Haack, Tobias B
Hammarsjö, Anna
Havlovicova, Marketa
Hoischen, Alexander
Hugon, Anne
Jackson, Adam
Kleefstra, Tjitske
Lindstrand, Anna
López Martín, Estrella
Macek, Milan
Morleo, Manuela
Nigro, Vicenzo
Nordgren, Ann
Pettersson, Maria
Pinelli, Michele
Pizzi, Simone
Posada, Manuel
Radio, Francesca C
Renieri, Alessandra
Rooryck, Caroline
Ryba, Lukas
Schwarz, Martin
Tartaglia, Marco
Thauvin, Christel
Torella, Annalaura
Verloes, Alain
Vissers, Lisenka
Votypka, Pavel
Vyshka, Klea
Zurek, Birte
Trimouille, Aurélien
last name
initials
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