Results 251 to 260 of about 358,265 (351)

New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex

Journal of Pathology, 2017
H. Lam, Julie Nijmeh, E. Henske
semanticscholar   +1 more source

The Multifaceted Nature of Tuberous Sclerosis Complex. [PDF]

Sultan Qaboos Univ Med J
Khan SA, Baig A, Riyami D.
europepmc   +1 more source

Characterization of immune cell profiles in the blood of children and adults with tuberous sclerosis complex disease

Laura Bierhansl, Lisa Langenbruch, Andreas Schulte‐Mecklenbeck, Andre Dik, Adam Strzelczyk, Susanne Schubert‐Bast, Sascha Meyer, Christoph Kellinghaus, Catharina C. Groß, Heymut Omran, Barbara Fiedler, Daniel Ebrahimi‐Fakhari, Heinz Wiendl, Stjepana Kovac   +13 more
openalex   +1 more source

A de novo HK1 Variant in a Boy Fulfilling the Diagnostic Criteria for Tuberous Sclerosis Complex: Expanding the Phenotypic Spectrum of NEDVIBA [PDF]

Daisuke Ariyasu, Hiroaki Satō, Hideo Cho, Yohei Saito, Moeko Nakashima, Kaoru Fujinami, Takatoshi Tsuchihashi, Kazuki Yamazawa   +7 more
openalex   +1 more source

A rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified. [PDF]

Oxf Med Case Reports
Salahat D, Mujahed R, Jaber M, Tahayneh M, Khalifa N, Alnjoom Q, Sabra R, Doudin M, Sabra R, AbuAlrub I.   +9 more
europepmc   +1 more source

Tuberous Sclerosis Complex-Associated Tubulointerstitial Kidney Disease. [PDF]

Kidney Int Rep
Sakhi H, Isnard P, Boudhabhay I, Correas JM, Burtey S, Joly D, Knebelmann B, Servais A.   +7 more
europepmc   +1 more source

Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016–2022 [PDF]

C Kidson, Ne‐Ron Loh, Yasir Ahmed Syed
openalex   +1 more source

Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex. [PDF]

Epilepsia
Sánchez Fernández I, Soldatelli MD, Miller GN, Gout CF, Broekhuizen EC, den Hertog ICJ, Pijs DA, Apostolopoulos E, Kaur P, Ouaalam A, Bebin ME, Northrup H, Krueger DA, Wu JY, Cohen AL, Sahin M, Karimi D, Warfield SK, Peters JM, TACERN Study Group and the Developmental Synaptopathies Consortium–RDCRN Study Group.   +19 more
europepmc   +1 more source

Developmental Outcome at 36 Months in Tuberous Sclerosis: Are There any Modifiable Predictors? [PDF]

Epilepsy Curr
Joshi C.
europepmc   +1 more source