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Mercimek-Andrews, Saadet
180  Ergebnisse:
Personensuche X
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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/..
 
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2

Coagulation abnormalities and vascular complications are co..:

Radenkovic, Silvia ; Bleukx, Sofie ; Engelhardt, Nicole...
Molecular Genetics and Metabolism.  142 (2024)  4 - p. 108530 , 2024
Link: https://doi.org/10.1016/..
 
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3

P002: Investigating the impact of the 2022 ClinGen missense..:

Groopman, Emily ; Goldstein, Jenny ; Thomas-Wilson, Amanda...
Genetics in Medicine Open.  2 (2024)  - p. 100879 , 2024
Link: https://doi.org/10.1016/..
 
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4

Genetic landscape of primary mitochondrial disorders due to..:

Mercimek-Andrews, Saadet ; Ambrose, Anastasia ; Sharma, Saloni...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108234 , 2024
Link: https://doi.org/10.1016/..
 
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5

A position statement on the post gene-therapy rehabilitatio..:

Lee, Hui-Min ; Mercimek-Andrews, Saadet ; Horvath, Gabriella...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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6

Applying phenotypic evidence to support the molecular diagn..:

Groopman, Emily ; Goldstein, Jenny ; Dickson, Alexa...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108165 , 2024
Link: https://doi.org/10.1016/..
 
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7

Clinical and biochemical phenotypes, genotypes, and long-te..:

Almenabawy, Nihal ; Bahl, Shalini ; Ostlund, Alyssa-Lyn...
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101055 , 2024
Link: https://doi.org/10.1016/..
 
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8

ClinGen variant curation expert panel recommendations for c..:

Goldstein, Jennifer ; Thomas-Wilson, Amanda ; Groopman, Emily...
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108362 , 2024
Link: https://doi.org/10.1016/..
 
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9

Dodecyl creatine ester therapy: from promise to reality:

Mabondzo, Aloïse ; van de Kamp, Jiddeke ; Mercimek-Andrews, Saadet
Cellular and Molecular Life Sciences.  81 (2024)  1 - p. , 2024
Link: https://doi.org/10.1007/..
 
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10

Novel insights into the phenotype and long-term D-gal treat..:

Radenkovic, Silvia ; Johnsen, Christin ; Schulze, Andreas...
Therapeutic Advances in Rare Disease.  4 (2023)  - p. 263300402211502 , 2023
Link: https://doi.org/10.1177/..
 
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11

O04: Developing a framework for sequence variant interpreta..:

Groopman, Emily ; Thomas-Wilson, Amanda ; Mohan, Shruthi...
Genetics in Medicine Open.  1 (2023)  1 - p. 100005 , 2023
Link: https://doi.org/10.1016/..
 
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12

Patient and caregiver experiences with pantothenate kinase-..:

Klopstock, Thomas ; Mercimek-Andrews, Saadet ; Jurecka, Agnieszka...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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13

NKX6-2 Disease in Two Unrelated Patients with Early-Onset S..:

Shurrab, Shaymaa ; Cordeiro, Dawn ; Mercimek-Andrews, Saadet.
Brain Disorders.  9 (2023)  - p. 100069 , 2023
Link: https://doi.org/10.1016/..
 
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14

Outcomes of mitochondrial long chain fatty acid oxidation a..:

Ambrose, Anastasia ; Sheehan, Melissa ; Bahl, Shalini...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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15

De novo missense variants in the E3 ubiquitin ligase adapto..:

Sleyp, Yoeri ; Valenzuela, Irene ; Accogli, Andrea...
Genetics in Medicine.  24 (2022)  12 - p. 2464-2474 , 2022
Link: https://doi.org/10.1016/..
 
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