Human Genome Epidemiology Literature Finder
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Records 1 - 4 (of 4 Records) |
| Query Trace: Syndrome and SMN1[original query] |
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| Large-scale population screening for spinal muscular atrophy: clinical implications. Genetics in medicine : official journal of the American College of Medical Genetics 2011 Feb 13 (2): 110-4. Ben-Shachar Shay, Orr-Urtreger Avi, Bardugo Eyal, Shomrat Ruth, Yaron Yuv |
| Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiology of aging 2014 Oct 35 (10): 2421.e13-7. van Blitterswijk Marka, Mullen Bianca, Heckman Michael G, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
| Molecular based newborn screening in Germany: Follow-up for cystinosis. Molecular genetics and metabolism reports 2019 10 21 100514. Hohenfellner Katharina, Bergmann Carsten, Fleige Tobias, Janzen Nils, Burggraf Siegfried, Olgemöller Bernd, Gahl William A, Czibere Ludwig, Froschauer Sonja, Röschinger Wulf, Vill Katharina, Harms Erik, Nennstiel U |
| Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series. Frontiers in genetics 2024 12 15 1502444. Kakha Bregvadze, Luka Abashishvili, Nana Nino Tatishvili, Teona Shatirishvili, Ana Bedoshvili, Gocha Chikvinidze, Arndt Rolfs, Volha Skrahina, Tinatin Tkemalad |
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