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Hohenfellner, Katharina [Author]; Nießl, Christina [Author]; Haffner, Dieter [Author]; Oh, Jun [Author]; Okorn, Christine [Author]; Palm, Katja [Author]; Schlingmann, Karl-Peter [Author]; Wygoda, Simone [Author]; Gahl, William Allen [Author]Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosisView onlineSchließen
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Published in: Molecular genetics and metabolism ; 136(2022), 4, Seite 282-288
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Nießl, Christina [Author]; Boulesteix, Anne-Laure [Author]; Oh, Jun [Author]; Palm, Katja [Author]; Schlingmann, Peter [Author]; Wygoda, Simone [Author]; Haffner, Dieter [Author]; Wühl, Elke [Author]; Tönshoff, Burkhard [Author]; Büscher, Anja K. [Author]; Billing, Heiko [Author]; Hoppe, Bernd [Author]; Zirngibl, Matthias [Author]; Kettwig, Matthias [Author]; Moeller, Kristina [Author]; Acham-Roschitz, Birgit [Author]; Arbeiter, Klaus [Author]; Bald, Martin [Author]; Benz, Marcus R. [Author]; Galiano, Matthias Luigi [Author]; John-Kroegel, Ulrike [Author]; Klaus, Günter [Author]; Marx-Berger, Daniela [Author]; Moser, Katja [Author]; [...]Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosisView onlineSchließen
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Published in: Molecular genetics and metabolism ; 136(2022), 4, Seite 268-273
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Nemunaitis, Gregory; Jay, Chris M.; Maples, Phillip B.; Gahl, William A.; Huizing, Marjan; Yardeni, Tal; Tong, Alex W.; Phadke, Anagha P.; Pappen, Beena O.; Bedell, Cynthia; Allen, Henry; Hernandez, Cathy; Templeton, Nancy S.; Kuhn, Joseph; Senzer, Neil; Nemunaitis, JohnHereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene LipoplexView onlineSchließen
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You can manage bookmarks using lists, please log in to your user account for this.Mary Ann Liebert Inc, 2011
Published in: Human Gene Therapy
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Machol, Keren; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Nguyen, Thi Tuyet Mai; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Shashi, Vandana; Jiang, Yong-hui; Stong, Nicholas; Fiala, Elise; Willing, Marcia; Pfundt, Rolph; Kleefstra, Tjitske; Cho, Megan T.; McLaughlin, Heather; Rosello Piera, Monica; Orellana, Carmen; Martínez, Francisco; Caro-Llopis, Alfonso; Monfort, Sandra; Roscioli, Tony; Nixon, Cheng Yee; Buckley, Michael F.; [...]Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayView onlineSchließen
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Published in: The American Journal of Human Genetics
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Oláhová, Monika; Yoon, Wan Hee; Thompson, Kyle; Jangam, Sharayu; Fernandez, Liliana; Davidson, Jean M.; Kyle, Jennifer E.; Grove, Megan E.; Fisk, Dianna G.; Kohler, Jennefer N.; Holmes, Matthew; Dries, Annika M.; Huang, Yong; Zhao, Chunli; Contrepois, Kévin; Zappala, Zachary; Frésard, Laure; Waggott, Daryl; Zink, Erika M.; Kim, Young-Mo; Heyman, Heino M.; Stratton, Kelly G.; Webb-Robertson, Bobbie-Jo M.; Snyder, Michael; [...]Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderView onlineSchließen
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Published in: The American Journal of Human Genetics
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Marcogliese, Paul C.; Shashi, Vandana; Spillmann, Rebecca C.; Stong, Nicholas; Rosenfeld, Jill A.; Koenig, Mary Kay; Martínez-Agosto, Julián A.; Herzog, Matthew; Chen, Agnes H.; Dickson, Patricia I.; Lin, Henry J.; Vera, Moin U.; Salamon, Noriko; Graham, John M.; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; [...]IRF2BPL Is Associated with Neurological PhenotypesView onlineSchließen
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Published in: The American Journal of Human Genetics
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Marcogliese, Paul C.; Shashi, Vandana; Spillmann, Rebecca C.; Stong, Nicholas; Rosenfeld, Jill A.; Koenig, Mary Kay; Martínez-Agosto, Julián A.; Herzog, Matthew; Chen, Agnes H.; Dickson, Patricia I.; Lin, Henry J.; Vera, Moin U.; Salamon, Noriko; Graham, John M.; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; [...]IRF2BPL Is Associated with Neurological PhenotypesView onlineSchließen
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Published in: The American Journal of Human Genetics
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Pena, Loren D.M.; Jiang, Yong-Hui; Schoch, Kelly; Spillmann, Rebecca C.; Walley, Nicole; Stong, Nicholas; Rapisardo Horn, Sarah; Sullivan, Jennifer A.; McConkie-Rosell, Allyn; Kansagra, Sujay; Smith, Edward C.; El-Dairi, Mays; Bellet, Jane; Keels, Martha Ann; Jasien, Joan; Kranz, Peter G.; Noel, Richard; Nagaraj, Shashi K.; Lark, Robert K.; Wechsler, Daniel S.G.; del Gaudio, Daniela; Leung, Marco L.; Hendon, Laura G.; Parker, Collette C.; [...]Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesView onlineSchließen
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Published in: Genetics in Medicine