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Esterhuizen, Alina I.
28  results:
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1

Clustered de novo start-loss variants in GLUL result in a d..:

Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J....
The American Journal of Human Genetics.  111 (2024)  4 - p. 729-741 , 2024
Link: https://doi.org/10.1016/..
 
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2

Precision medicine for developmental and epileptic encephal..:

Esterhuizen, Alina I. ; Tiffin, Nicki ; Riordan, Gillian...
Genetics in Medicine.  25 (2023)  2 - p. 100333 , 2023
Link: https://doi.org/10.1016/..
 
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3

DMD‐related muscular dystrophy in Cameroon: Clinical and ge..:

Wonkam‐Tingang, Edmond ; Nguefack, Séraphin ; Esterhuizen, Alina I...
Molecular Genetics & Genomic Medicine.  8 (2020)  8 - p. , 2020
Link: https://doi.org/10.1002/..
 
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4

Clinical Application of Epilepsy Genetics in Africa: Is Now..:

Esterhuizen, Alina I. ; Carvill, Gemma L. ; Ramesar, Rajkumar S....
Frontiers in Neurology.  9 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
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5

Skin cells for use in an alternate diagnostic method for Du..:

Tyers, Lynn ; Davids, Lester M. ; Wilmshurst, Jo M..
Neuromuscular Disorders.  28 (2018)  7 - p. 553-563 , 2018
Link: https://doi.org/10.1016/..
 
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6

Dravet syndrome in South African infants: Tools for an earl..:

Esterhuizen, Alina I. ; Mefford, Heather C. ; Ramesar, Rajkumar S....
Seizure.  62 (2018)  - p. 99-105 , 2018
Link: https://doi.org/10.1016/..
 
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7

DMD‐related muscular dystrophy in Cameroon: Clinical and ge..:

Wonkam‐Tingang, Edmond ; Nguefack, Séraphin ; Esterhuizen, Alina I..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434738/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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8

DRAVET SYNDROME IN SOUTH AFRICAN INFANTS: TOOLS FOR AN EARL..:

Esterhuizen, Alina I ; Mefford, Heather C ; Ramesar, Rajkumar S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261486/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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9

DMD‐related muscular dystrophy in Cameroon: Clinical and ge..:

Edmond Wonkam‐Tingang ; Séraphin Nguefack ; Alina I. Esterhuizen..
https://doi.org/10.1002/mgg3.1362.  , 2020
Link: https://doi.org/10.1002/..
 
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10

Clinical Application of Epilepsy Genetics in Africa: Is Now..:

Alina I. Esterhuizen ; Gemma L. Carvill ; Rajkumar S. Ramesar...
http://journal.frontiersin.org/article/10.3389/fneur.2018.00276/full.  , 2018
Link: https://doi.org/10.3389/..
 
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11

Noonan Syndrome in South Africa: Clinical and Molecular Pro..:

Tekendo-Ngongang, Cedrik ; Agenbag, Gloudi ; Bope, Christian Domilongo..
Frontiers in Genetics.  10 (2019)  - p. , 2019
Link: https://doi.org/10.3389/..
 
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12

Current practice in diagnostic genetic testing of the epile..:

Krey, Ilona ; Platzer, Konrad ; Esterhuizen, Alina...
Epileptic Disorders.  24 (2022)  5 - p. 765-786 , 2022
Link: https://doi.org/10.1684/..
 
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13

Cascade Testing for Fragile X Syndrome in a Rural Setting i..:

Kengne Kamga, Karen ; Nguefack, Séraphin ; Minka, Khuthala...
Genes.  11 (2020)  2 - p. 136 , 2020
Link: https://doi.org/10.3390/..
 
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14

Renal dysfunction, rod‐cone dystrophy, and sensorineural he..:

Roberts, Lisa ; Julius, Stephanie ; Dawlat, Shrinav...
Human Mutation.  41 (2020)  11 - p. 1871-1876 , 2020
Link: https://doi.org/10.1002/..
 
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15

C9orf72 repeat expansions in South Africans with amyotrophi..:

Nel, Melissa ; Agenbag, Gloudi M. ; Henning, Franclo...
Journal of the Neurological Sciences.  401 (2019)  - p. 51-54 , 2019
Link: https://doi.org/10.1016/..
 
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