Results 141 to 150 of about 12,643 (191)

Synthetic Hype: A Skeptical View of the Promise of Synthetic Biology [PDF]

, 2011
Kahn, Jonathan
core   +1 more source

Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series. [PDF]

Eur J Neurol
Fullam S, Togher Z, Power A, Kennelly L, McHugh JC, O'Dowd S, Tubridy N, Hardiman O, Costigan D, Ryan A, Lefter S, Connolly S, Murphy SM.   +12 more
europepmc   +1 more source

Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis. [PDF]

Front Neurol
Bilyalova A, Shagimardanova E, Bilyalov A, Zaripova M, Shigapova L, Gazizova G, Mazin P, Tatiana B, Gusev O.   +8 more
europepmc   +1 more source

Telemedicine and GM-2 gangliosidosis (Tay-Sachs) disease - A new savior on the horizon during COVID-19 pandemic.

Indian J Ophthalmol, 2021
Grover R, Sutar S, Juneja S.
europepmc   +1 more source

Infantile Monosialoganglioside2 (GM2) Gangliosidosis With Concurrent Bronchopneumonia: An Extraordinary Case of Tay-Sachs Disease. [PDF]

Cureus
Grezenko H, Al-Deir SS, Eshete FD, Faran N, Mimms CS, Ibrahim M.   +5 more
europepmc   +1 more source

Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family. [PDF]

Pak J Med Sci, 2020
Naseer MI, Abdulkareem AA, Jan MM, Chaudhary AG, Al-Qahtani MH.   +4 more
europepmc   +1 more source

HPN Summer 2011 Download Full PDF [PDF]

, 2011

core   +1 more source

Tay-Sachs disease

, 2013
Mohammad Taghi Niknejad, Arlene Campos, Daniel Bell   +2 more
openaire   +2 more sources

Power and Pity: Two Responses to Suffering Humanity [PDF]

, 1980
MacDonald, Sebastian
core   +1 more source

Correction: Raha et al. Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor α. Cells 2023, 12, 2791. [PDF]

Cells
Raha S, Dutta D, Paidi RK, Pahan K.
europepmc   +1 more source