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Developmental Outcomes of Aicardi Goutières Syndrome. [electronic resource] by
- Adang, Laura
- Gavazzi, Francesco
- De Simone, Micaela
- Fazzi, Elisa
- Galli, Jessica
- Koh, Jamie
- Kramer-Golinkoff, Julia
- De Giorgis, Valentina
- Orcesi, Simona
- Peer, Kyle
- Ulrick, Nicole
- Woidill, Sarah
- Shults, Justine
- Vanderver, Adeline
Producer: 20210617
In:
Journal of child neurology vol. 35
Availability: No items available.
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13.
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Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy. [electronic resource] by
- Pizzino, Amy
- Whitehead, Matthew
- Sabet Rasekh, Parisa
- Murphy, Jennifer
- Helman, Guy
- Bloom, Miriam
- Evans, Sarah H
- Murnick, John G
- Conry, Joan
- Taft, Ryan J
- Simons, Cas
- Vanderver, Adeline
- Adang, Laura A
Producer: 20190521
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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14.
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Development of a neurologic severity scale for Aicardi Goutières Syndrome. [electronic resource] by
- Adang, Laura A
- Gavazzi, Francesco
- Jawad, Abbas F
- Cusack, Stacy V
- Kopin, Kimberly
- Peer, Kyle
- Besnier, Constance
- De Simone, Micaela
- De Giorgis, Valentina
- Orcesi, Simona
- Fazzi, Elisa
- Galli, Jessica
- Shults, Justine
- Vanderver, Adeline
Producer: 20210406
In:
Molecular genetics and metabolism vol. 130
Availability: No items available.
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15.
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Aicardi goutières syndrome is associated with pulmonary hypertension. [electronic resource] by
- Adang, 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
Producer: 20190611
In:
Molecular genetics and metabolism vol. 125
Availability: No items available.
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16.
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Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. [electronic resource] by
- Ahrens-Nicklas, Rebecca
- Schlotawa, Lars
- Ballabio, Andrea
- Brunetti-Pierri, Nicola
- De Castro, Mauricio
- Dierks, Thomas
- Eichler, Florian
- Ficicioglu, Can
- Finglas, Alan
- Gaertner, Jutta
- Kirmse, Brian
- Klepper, Joerg
- Lee, Marcus
- Olsen, Amber
- Parenti, Giancarlo
- Vossough, Arastoo
- Vanderver, Adeline
- Adang, Laura A
Producer: 20190205
In:
Molecular genetics and metabolism vol. 123
Availability: No items available.
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17.
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Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry. [electronic resource] by
- Hong, Xinying
- Kumar, Arun Babu
- Daiker, Jessica
- Yi, Fan
- Sadilek, Martin
- De Mattia, Fabiola
- Fumagalli, Francesca
- Calbi, Valeria
- Damiano, Roberta
- Della Bona, Maria
- la Marca, Giancarlo
- Vanderver, Adeline L
- Waldman, Amy T
- Adang, Laura
- Sherbini, Omar
- Woidill, Sarah
- Suhr, Teryn
- Kurtzberg, Joanne
- Beltran-Quintero, Maria L
- Escolar, Maria
- Aiuti, Alessandro
- Finglas, Alan
- Olsen, Amber
- Gelb, Michael H
Producer: 20210210
In:
Analytical chemistry vol. 92
Availability: No items available.
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18.
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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. [electronic resource] by
- Adang, Laura A
- Sherbini, Omar
- Ball, Laura
- Bloom, Miriam
- Darbari, Anil
- Amartino, Hernan
- DiVito, Donna
- Eichler, Florian
- Escolar, Maria
- Evans, Sarah H
- Fatemi, Ali
- Fraser, Jamie
- Hollowell, Leslie
- Jaffe, Nicole
- Joseph, Christopher
- Karpinski, Mary
- Keller, Stephanie
- Maddock, Ryan
- Mancilla, Edna
- McClary, Bruce
- Mertz, Jana
- Morgart, Kiley
- Langan, Thomas
- Leventer, Richard
- Parikh, Sumit
- Pizzino, Amy
- Prange, Erin
- Renaud, Deborah L
- Rizzo, William
- Shapiro, Jay
- Suhr, Dean
- Suhr, Teryn
- Tonduti, Davide
- Waggoner, Jacque
- Waldman, Amy
- Wolf, Nicole I
- Zerem, Ayelet
- Bonkowsky, Joshua L
- Bernard, Genevieve
- van Haren, Keith
- Vanderver, Adeline
Producer: 20180518
In:
Molecular genetics and metabolism vol. 122
Availability: No items available.
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19.
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function. [electronic resource] by
- Rice, Gillian I
- Park, Sehoon
- Gavazzi, Francesco
- Adang, Laura A
- Ayuk, Loveline A
- Van Eyck, Lien
- Seabra, Luis
- Barrea, Christophe
- Battini, Roberta
- Belot, Alexandre
- Berg, Stefan
- Billette de Villemeur, Thierry
- Bley, Annette E
- Blumkin, Lubov
- Boespflug-Tanguy, Odile
- Briggs, Tracy A
- Brimble, Elise
- Dale, Russell C
- Darin, Niklas
- Debray, François-Guillaume
- De Giorgis, Valentina
- Denecke, Jonas
- Doummar, Diane
- Drake Af Hagelsrum, Gunilla
- Eleftheriou, Despina
- Estienne, Margherita
- Fazzi, Elisa
- Feillet, François
- Galli, Jessica
- Hartog, Nicholas
- Harvengt, Julie
- Heron, Bénédicte
- Heron, Delphine
- Kelly, Diedre A
- Lev, Dorit
- Levrat, Virginie
- Livingston, John H
- Marti, Itxaso
- Mignot, Cyril
- Mochel, Fanny
- Nougues, Marie-Christine
- Oppermann, Ilena
- Pérez-Dueñas, Belén
- Popp, Bernt
- Rodero, Mathieu P
- Rodriguez, Diana
- Saletti, Veronica
- Sharpe, Cia
- Tonduti, Davide
- Vadlamani, Gayatri
- Van Haren, Keith
- Tomas Vila, Miguel
- Vogt, Julie
- Wassmer, Evangeline
- Wiedemann, Arnaud
- Wilson, Callum J
- Zerem, Ayelet
- Zweier, Christiane
- Zuberi, Sameer M
- Orcesi, Simona
- Vanderver, Adeline L
- Hur, Sun
- Crow, Yanick J
Producer: 20210722
In:
Human mutation vol. 41
Availability: No items available.
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