References
Aug 17, 1999·Archives of Disease in Childhood. Fetal and Neonatal Edition·H J Porter
Sep 15, 2005·Pediatric Pulmonology·Monique E De PaepeHalit Pinar
Dec 17, 2009·Indian Journal of Pediatrics·A AghabiklooeiMohammad H Kariminejad
May 10, 2011·American Journal of Human Genetics·Alexandra GötzAnu Suomalainen
Jan 27, 2012·Science Translational Medicine·Sarah E CalvoVamsi K Mootha
Feb 22, 2012·Journal of the Chinese Medical Association : JCMA·Jui-Sheng HsuRen-Bin Tang
Mar 19, 2014·International Journal of Cell Biology·Daria DiodatoValeria Tiranti
May 9, 2014·Neurology·Cristina DallabonaMarjo S van der Knaap
Jul 25, 2014·JAMA : the Journal of the American Medical Association·Robert W TaylorPatrick F Chinnery
Feb 24, 2015·Frontiers in Genetics·Liliya EuroHenna Tyynismaa
Apr 11, 2015·The Indian Journal of Medical Research·Nahid Akhtar KhanKumarasamy Thangaraj
Jun 18, 2015·Journal of Neuropathology and Experimental Neurology·Nichola Z LaxRobert W Taylor
Dec 3, 2015·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·Yanny Paola Delgado-PeñaFelíx Castillo-Salinas
Nov 15, 2016·Cardiology in the Young·Stella MazurovaTomas Honzik
Mar 24, 2017·Brain : a Journal of Neurology·David S LynchHenry Houlden
Jul 19, 2017·Trends in Molecular Medicine·Marie SisslerEric Westhof
Aug 20, 2017·Journal of Perinatal Medicine·Zandrè BruwerKhalid Al-Thihli
Dec 14, 2017·The Journal of Biological Chemistry·Ann E FrazierAlison G Compton
Feb 15, 2018·European Journal of Human Genetics : EJHG·Rick KampsHubert J M Smeets
Sep 11, 2018·Current Opinion in Pediatrics·Elizabeth M McCormickMarni J Falk
Oct 5, 2018·Human Molecular Genetics·Ewen W SommervilleRobert W Taylor
Jan 17, 2019·The Journal of Biological Chemistry·Ligia Elena González-SerranoMarie Sissler
Citations
May 18, 2019·American Journal of Medical Genetics. Part a·Siddharth SrivastavaSakkuBai Naidu
Aug 20, 2020·American Journal of Medical Genetics. Part a·Emily K MisSaquib A Lakhani
Aug 9, 2019·Endocrinology·Dov TiosanoDavid A Buchner
May 1, 2021·International Journal of Molecular Sciences·Sonia FigucciaPaola Goffrini
Sep 30, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Nobuhiko OkamotoKenjiro Kosaki