E-LIB Suche - Ergebnisse für: Buhas, Daniela

1

Assessing the quality and value of metabolic chart data for..:

Iverson, Ryan ; Taljaard, Monica ; Geraghty, Michael T....
BMC Pediatrics. 24 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

Safety and efficacy of deoxycytidine/deoxythymidine combina..:

Pekeles, Heather ; Berrahmoune, Saoussen ; Dassi, Christelle...
eClinicalMedicine. 74 (2024) - p. 102740 , 2024

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

3

Biallelic variants in OGDH encoding oxoglutarate dehydrogen..:

Whittle, Ella F. ; Chilian, Madison ; Karimiani, Ehsan Ghayoor...
Genetics in Medicine. 25 (2023) 2 - p. 100332 , 2023

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

4

Safety and efficacy of deoxycytidine/deoxythymidine combina..:

Myers, Kenneth ; Berrahmoune, Saoussen ; Cheung, Anthony...
Journal of the Neurological Sciences. 455 (2023) - p. 121138 , 2023

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

5

Genetic and metabolic investigations for neurodevelopmental..:

Carter, Melissa T ; Srour, Myriam ; Au, Ping-Yee Billie...
Journal of Medical Genetics. 60 (2023) 6 - p. 523-532 , 2023

Link: https://doi.org/10.1136/..

6

The epileptology of Wiedemann-Steiner syndrome: Electroclin..:

Sahly, Ahmed N. ; Srour, Myriam ; Buhas, Daniela..
European Journal of Paediatric Neurology. 44 (2023) - p. 46-50 , 2023

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

7

MT‐TA pathogenic variants may cause developmental and epile..:

Sahly, Ahmed N. ; Buhas, Daniela ; Myers, Kenneth A.
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3135-3138 , 2022

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

8

Life-threatening viral disease in a novel form of autosomal..:

Duncan, Christopher J.A. ; Skouboe, Morten K. ; Howarth, Sophie...
Journal of Experimental Medicine. 219 (2022) 6 - p. , 2022

Link: https://doi.org/10.1084/..

9

Timing of therapy and neurodevelopmental outcomes in 18 fam..:

Tseng, Laura A. ; Abdenur, Jose E. ; Andrews, Ashley...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 350-356 , 2022

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

10

Case report: PLPHP deficiency, a rare but important cause o..:

Alsubhi, Sarah ; Osterman, Bradley ; Chrestian, Nicolas...
Frontiers in Neurology. 13 (2022) - p. , 2022

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

11

Enhanced cGAS-STING–dependent interferon signaling associat..:

Lepelley, Alice ; Della Mina, Erika ; Van Nieuwenhove, Erika...
Journal of Experimental Medicine. 218 (2021) 10 - p. , 2021

Link: https://doi.org/10.1084/..

12

French-Canadian families from Saguenay-Lac-Saint-Jean: a ne..:

Cruz Marino, Tania ; Villeneuve, Hélène ; Leblanc, Josianne...
Endocrine. 75 (2021) 1 - p. 48-58 , 2021

Link: https://doi.org/10.1007/..

13

Enhancing the Impact of Genomics Research in Autism through..:

Peltekova, Iskra ; Buhas, Daniela ; Stern, Lara...
Journal of Personalized Medicine. 11 (2021) 8 - p. 755 , 2021

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

14

Consensus guidelines for the diagnosis and management of py..:

Coughlin II, Curtis R. ; Tseng, Laura A. ; Abdenur, Jose E....
Journal of Inherited Metabolic Disease. 44 (2020) 1 - p. 178-192 , 2020

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

15

Biallelic MADD variants cause a phenotypic spectrum ranging..:

Schneeberger, Pauline E ; Kortüm, Fanny ; Korenke, Georg Christoph...
Brain. 143 (2020) 8 - p. 2437-2453 , 2020

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