Not logged inEndocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve .png)
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SaveAicardi goutieres syndrome is associated with pulmonary hypertensionAdang, Laura A.; Frank, David B.; Gilani, Ahmed; Takanohashi, Asako; Ulrick, Nicole; Collins, Abigail; Cross, Zachary; Galambos, Csaba; Helman, Guy; Kanaan, Usama; Keller, Stephanie; Simon, Dawn; Sherbini, Omar; Hanna, Brian D.; Vanderver, Adeline L. Share Save Neonatal detection of Aicardi Goutieres Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsArmangue, Thais; Orsini, Joseph J.; Takanohashi, Asako; Gavazzi, Francesco; Conant, Alex; Ulrick, Nicole; Morrissey, Mark A.; Nahhas, Norah; Helman, Guy; Gordish-Dressman, Heather; Orcesi, Simona; Tonduti, Davide; Stutterd, Chloe; van Haren, Keith; Toro, Camillo; Iglesias, Alejandro D.; van der Knaap, Marjo S.; Mansky, Raphaela Goldbach; Moser, Anne B.; Jones, Richard O.; Vanderver, Adeline Share Save RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionUlrick, Nicole; Goldstein, Amy; Simons, Cas; Taft, Ryan J.; Heiman, Guy; Pizzino, Amy; Bloom, Miriam; Vogt, Julie; Pysden, Karen; Diodato, Dania; Martinelli, Diego; Monavari, Ahmad; Buhas, Daniela; van Karnebeek, Clara D. M.; Dorboz, Imen; Boespflug-Tanguy, Odile; Rodriguez, Diana; Tetreault, Martine; Majewski, Jacek; Bernard, Genevieve; Ng, Yi Shiau; McFarland, Robert; Vanderver, Adeline Share Save The clinical, biochemical and genetic features associated with RMND1-related mitochondrial diseaseNg, Yi Shiau; Alston, Charlotte L.; Diodato, Daria; Morris, Andrew A.; Ulrick, Nicole; Kmoch, Stanislav; Houstek, Josef; Martinelli, Diego; Haghighi, Alireza; Atiq, Mehnaz; Gamero, Montserrat Anton; Garcia-Martinez, Elena; Kratochvilova, Hana; Santra, Saikat; Brown, Ruth M.; Brown, Garry K.; Ragge, Nicola; Monavari, Ahmad; Pysden, Karen; Ravn, Kirstine; Casey, Jillian P.; Khan, Arif; Chakrapani, Anupam; Vassallo, Grace; Simons, Cas; McKeever, Karl; O'Sullivan, Siobhan; Childs, Anne-Marie; Ostergaard, Elsebet; Vanderver, Adeline; Goldstein, Amy; Vogt, Julie; Taylor, Robert W.; McFarland, Robert Share Save 
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