E-LIB Suche - Ergebnisse für: Dobyns, William B.

1

Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy:..:

Pierpont, Elizabeth I. ; Labounek, René ; Gupta, Ashish...
Neurology. 103 (2024) 5 - p. , 2024

Link: https://doi.org/10.1212/..

2

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome:

Metry, Denise ; Copp, Hillary L. ; Rialon, Kristy L....
The Journal of Pediatrics. 272 (2024) - p. 114101 , 2024

Link: https://doi.org/10.1016/..

3

66 A Recurrent Pattern of Posterior Vermis-Predominant Cere..:

Leslie, Alison C. ; Dobyns, William B. ; Ward, Mitchell P.
Journal of the International Neuropsychological Society. 29 (2023) s1 - p. 850-851 , 2023

Link: https://doi.org/10.1017/..

4

TMEM161B modulates radial glial scaffolding in neocortical ..:

Wang, Lu ; Heffner, Caleb ; Vong, Keng loi...
Proceedings of the National Academy of Sciences. 120 (2023) 4 - p. , 2023

Link: https://doi.org/10.1073/..

5

Undifferentiated psychosis or schizophrenia associated with..:

Leslie, Alison C. ; Ward, Mitchell P. ; Dobyns, William B.
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

Link: https://doi.org/10.1002/..

6

Heterozygous variants in MYH10 associated with neurodevelop..:

Holtz, Alexander M. ; VanCoillie, Rachel ; Vansickle, Elizabeth A....
Genetics in Medicine. 24 (2022) 10 - p. 2065-2078 , 2022

Link: https://doi.org/10.1016/..

7

Profiling PI3K-AKT-MTOR variants in focal brain malformatio..:

Pirozzi, Filomena ; Berkseth, Matthew ; Shear, Rylee...
Brain. 145 (2022) 3 - p. 925-938 , 2022

Link: https://doi.org/10.1093/..

8

Bi-allelic CAMSAP1 variants cause a clinically recognizable..:

Khalaf-Nazzal, Reham ; Fasham, James ; Inskeep, Katherine A....
The American Journal of Human Genetics. 109 (2022) 11 - p. 2068-2079 , 2022

Link: https://doi.org/10.1016/..

9

Monoallelic and biallelic mutations in RELN underlie a grad..:

Di Donato, Nataliya ; Guerrini, Renzo ; Billington Jr, Charles J...
Brain. 145 (2022) 9 - p. 3274-3287 , 2022

Link: https://doi.org/10.1093/..

10

Multidisciplinary interaction and MCD gene discovery. The p..:

Mancini, Grazia M.S. ; Smits, Daphne J. ; Dekker, Jordy...
European Journal of Paediatric Neurology. 35 (2021) - p. 27-34 , 2021

Link: https://doi.org/10.1016/..

11

List of Contributors:

, In: Child Neurology,

Aaen, Gregory ; Abroms, Israel F. ; Ådén, Ulrika... - p. ix-xi , 2021

Link: https://doi.org/10.1016/..

12

Lissencephaly: Update on diagnostics and clinical managemen:

Koenig, Matti ; Dobyns, William B. ; Di Donato, Nataliya
European Journal of Paediatric Neurology. 35 (2021) - p. 147-152 , 2021

Link: https://doi.org/10.1016/..

13

Cell-free DNA as a diagnostic analyte for molecular diagnos..:

Zenner, Kaitlyn ; Jensen, Dana M. ; Cook, Tori T....
Genetics in Medicine. 23 (2021) 1 - p. 123-130 , 2021

Link: https://doi.org/10.1038/..

14

Proximal variants in CCND2 associated with microcephaly, sh..:

Pirozzi, Filomena ; Lee, Benson ; Horsley, Nicole...
American Journal of Medical Genetics Part A. 185 (2021) 9 - p. 2719-2738 , 2021

Link: https://doi.org/10.1002/..

15

Expanding the KIF4A‐associated phenotype:

Kalantari, Silvia ; Carlston, Colleen ; Alsaleh, Norah...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3728-3739 , 2021

Link: https://doi.org/10.1002/..