E-LIB Suche - Ergebnisse für: Wierenga, Klaas J.

1

P185: Genome and exome sequencing to define cardiac phenoty..:

Figueiral, Marta ; Paldino, Alessia ; Wilke, Matheus...
Genetics in Medicine Open. 2 (2024) - p. 101082 , 2024

2

An adult with acylglycerol kinase deficiency:

Wierenga, Klaas ; Boniface, Michael ; Seim, Lynsey...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108311 , 2024

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

3

Exploring the phenotypic spectrum and osteopenia mechanisms..:

Beauregard-Lacroix, Éliane ; Scott, Alexandra ; Nguyen, Thi Tuyet Mai...
Genetics in Medicine Open. 2 (2024) - p. 101837 , 2024

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

4

Unveiling a novel disease entity of lysosomal disorder fami..:

Wang, Hua ; Wierenga, Andrea M. ; Wierenga, Klaas
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108069 , 2024

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

5

Rapidly Progressive Cerebellar Ataxia and Dementia due to C..:

Koga, Shunsuke ; Ali, Shan ; Baker, Matthew...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

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

6

Adult-onset leukodystrophies: a practical guide, recent tre..:

Muthusamy, Karthik ; Sivadasan, Ajith ; Dixon, Luke...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

7

Statistical Mechanics Metrics in Pairing and Parsing In Sil..:

Chaudhri, Eman N. ; Abbott, Jessica M. ; Islam, Naeyma N....
Genes. 14 (2023) 10 - p. 1855 , 2023

Link: https://doi.org/10.3390/..

8

Bi-allelic variants in HMGCR cause an autosomal-recessive p..:

Morales-Rosado, Joel A. ; Schwab, Tanya L. ; Macklin-Mantia, Sarah K....
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023

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

9

Reply to: "The First Allogeneic Hematopoietic Stem Cell Tra..:

Tipton, Philip W. ; Wierenga, Klaas J. ; Wszolek, Zbigniew K.
Movement Disorders. 37 (2022) 7 - p. 1572-1573 , 2022

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

10

PLA2G6-associated neurodegeneration in four different popul..:

Hanna Al-Shaikh, Rana ; Milanowski, Lukasz M. ; Holla, Vikram V....
Parkinsonism & Related Disorders. 101 (2022) - p. 66-74 , 2022

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

11

Neuropathological Findings of CSF1R‐Related Leukoencephalop..:

Koga, Shunsuke ; Tipton, Philip W. ; Wierenga, Klaas J...
Movement Disorders. 37 (2022) 2 - p. 439-440 , 2022

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

12

A novel clinicopathologic entity causing rapidly progressiv..:

Koga, Shunsuke ; Ali, Shan ; Baker, Matthew C....
Parkinsonism & Related Disorders. 105 (2022) - p. 149-153 , 2022

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

13

Functional validation of a novel AAAS variant in an atypica..:

Macke, Erica L. ; Morales‐Rosado, Joel A. ; Macklin‐Mantia, Sarah K....
Molecular Genetics & Genomic Medicine. 10 (2022) 7 - p. , 2022

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

14

Clinicoradiographic and genetic features of cerebral small ..:

Muthusamy, Karthik ; Ferrer, Alejandro ; Klee, Eric W...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021

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

15

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, Guoliang ; Webb, Alice ; Li, Chen...
Neuron. 109 (2021) 2 - p. 241-256.e9 , 2021

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